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BACKGROUND: Spinal cord diffuse midline gliomas are rare, infiltrative entities with an extremely grim prognosis. Standard of care is limited and extrapolated from those for intracranial gliomas, focusing on maximal safe resection, chemotherapy and radiation therapy. These do not prolong survival significantly and while advances in molecular profiling and targeted therapy have been promising, further research still needs to be performed. Here, we present a case of a young lady with a cervical cord diffuse midline glioma, along with a literature review of the disease and treatment options. CASE DESCRIPTION: A 35-year-old female presented with progressive neck pain and left sided weakness. MRI revealed an intramedullary cervical spinal cord lesion. The lesion progressed rapidly to the medulla, resulting in lower cranial nerve palsies and left hemiplegia. Investigations for autoimmune and infective causes were negative. Cervical laminectomy and debulking was performed. Histological analysis showed high grade diffuse glioma, IDH-wildtype, loss of H3K27me3 staining and H3K27M positivity. The patient was treated with fractionated radiation and temozolamide, followed by lomustine and bevacizumab. A literature review was performed to better understand the molecular features, natural history and treatment options for spinal cord high grade gliomas. Our case highlights the importance of maintaining broad differentials for patients exhibiting features of cervical myelopathy. Malignant spinal cord tumours could be a differential. Molecular testing can aid in achieving an accurate diagnosis to better understand prognosis and determine treatment options. Early, function-preserving debulking with neuromonitoring is feasible. Adjuvant therapy with chemotherapy and radiation can prolong survival. CONCLUSIONS: Spinal cord diffuse midline gliomas H3 K27-altered demonstrate rapid progression and a poor prognosis. They should be considered as a differential in patients with cervical myelopathy. Molecular testing for H3 K27 alterations facilitates an accurate diagnosis. Surgical debulking and adjuvant therapy are viable treatment options.

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A 58-year-old male with good past health presented with headache and visual disturbance for 1 month. Computed tomography (CT) and magnetic resonance imaging (MRI) were performed, showing a large aggressive midline mass with epicenter at the skull base and sellar-suprasellar region. There was marked heterogenous enhancement and intratumoral calcifications. It demonstrated clivus erosion, sphenoid sinus invasion, cavernous sinus invasion and optic chiasm compression. The imaging features were considered to be consistent with clival chordoma and the patent underwent emergent endoscopic transsphenoidal surgical excision. The difficult operation found an unexpected highly vascularized tumor and histopathology of the excision showed clear cell renal cell carcinoma metastasis. Subsequent work up of the patient with positron emission tomography-computed tomography (PET-CT) confirmed suspicion of the primary tumor, arising from left kidney. This case demonstrates an underestimated differential diagnosis of a large aggressive skull base mass as the first initial clinical presentation of metastatic disease.

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PURPOSE: In the present study, we investigated how tumor distance from midline (TDFM) and depth of invasion (DOI) may affect survival outcomes after compartmental tongue surgery (CTS) for oral tongue squamous cell carcinoma (OTSCC). METHODS: A retrospective series of cT2-T3 OTSCC treated with upfront CTS at our Department from 2010 to 2021 was evaluated. Radiological and pathological DOI and TDFM were correlated. The main outcomes were overall (OS) and loco-regional recurrence free survival (LRRFS). The linear relationship between DOI and TDFM with 2-year OS and LRRFS was tested. Survival estimates were obtained by the Kaplan-Meier method. Univariate analysis was performed for variables of interest, and results expressed in terms of hazard ratios and 95% confidence intervals. RESULTS: A total of 64 patients underwent CTS and neck dissection. No significant difference was found between pathological (pDOI) and radiological DOI (rDOI) (p = 0.321) or between pathological (pTDFM) and radiological TDFM (p = 0.435). Two- and 5-year OS and LRRFS were 85.7% and 70.4%, 84.3% and 76.1%, respectively. A linear and significant relationship with OS (p = 0.020) and LRRFS (p = 0.013) was found for pDOI; although linear, the relationship between pTDFM was not statistically significant for either survival outcomes. Once categorized, the ideal cut-off for pDOI according to OS was set at 10 mm (p = 0.023). CONCLUSION: In patients undergoing CTS for primary OTSCC, magnetic resonance-derived rDOI represents an accurate estimate of pDOI, In contrast, TDFM was not associated with OS suggesting that the median raphe is a safe deep margin for CTS. PROTOCOL N: BS/231,009 retrospectively registered.

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BACKGROUND: Central venous catheters and midline catheters are commonly used as medium- to long-term intravenous infusion tools in clinical nursing. However, there is currently no reliable conclusion on whether there are differences in complications and indwelling time between these two types of catheters. AIM: To investigate whether there are differences in the incidence of complications and indwelling time between the use of midline catheters and central venous catheters as intravenous infusion tools. METHODS: A systematic search was conducted across various databases including Web of Science, PubMed, Embase, Cochrane Library, CINAHL, Wanfang and China National Knowledge Infrastructure. The selection of studies and assessment of their quality was carried out independently by two reviewers. Meta-analysis was conducted using the RevMan 5.3 software. Heterogeneity was evaluated, one of the pooled analyses was performed using the random-effect model, while the others used the fixed-effect model. Mean differences or odds ratios with corresponding 95% confidence intervals were calculated. RESULTS: Ten studies (1,554 participants) met the inclusion criteria. Meta-analysis showed that there was a statistically significant difference in the complication rates [OR = 0.36, 95% CI (0.18, 0.70), p = 0.003], incidence of catheter-related thrombosis [OR = 0.28, 95% CI (0.11, 0.71), I2 = 0%,p = 0.007], catheter-related infection[OR = 0.36, 95% CI (0.16, 0.78), I2 = 27%, p = 0.007] and catheter blockage [OR = 0.21, 95% CI (0.09, 0.51), I2 = 18%, p = 0.0005] between midline catheters group and central venous catheters group. There was a statistically significant difference in the catheter indwelling time between the two groups [MD = 0.9, 95% CI (0.33, 1.46), I2 = 0%, p = 0.002]. There was no significant difference in other complications such as phlebitis, catheter dislodgement and leakage between the two groups. LINKING EVIDENCE TO ACTION: Midline catheter was superior to central venous catheter in terms of the overall complication rates and incidence of catheter-related thrombosis, catheter blockage, catheter-related infection and indwelling time.

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No study has examined the simultaneous effect of facial forms, midline deviations and midline angulations on facial beauty. Therefore, this comprehensive study aimed to evaluate these and many other hypotheses. This psychometric study was performed on 15,042 observations. A female frontal photograph was edited to 45 perceptometric images with controlled anatomical alteration: 3 facial forms (euryprosopic [brachyfacial], mesoprosopic [mesofacial], leptoprosopic [dolichofacial]), each having either 9 bidirectional midline deviations (0, 1, 2, 3, and 4 mm deviated to the left and right) or 7 bidirectional midline angular deviations (0°, 5°, 10°, and 15° deviated to the left and right). One of the photographs were repeated. These 46 images were esthetically judged by 327 participants (243 laypeople, 49 orthodontists, and 35 'prosthodontists or restorative dentists'). Hierarchical mixed-model multiple linear regressions and post hoc tests were adopted to evaluate the simultaneous impacts of the photomodel's facial forms, midline deviations to the right or left, and midline rolls to the right or left plus sex, age, experience, and dental specialty of the referees on their perception of facial beauty as well as the tolerable zones of midline alterations. These were also done separately for each specialty group, and also for each facial face. Ideal combinations of anatomic features were determined using repeated-measures ANOVAs. Differences between esthetic preferences of different groups in terms of each image were assessed using one-way ANOVAs and t-tests (α = 0.05, α = 0.008, α = 0.001). All 5 anatomical features significantly and independently influenced perception of facial beauty. The tolerance threshold for midline deviations was 1 mm deviations to the right and left sides. For midline rolls, the only tolerable form was the no-roll ('on') midline; the judges preferred right-oriented defects over left-sided ones. The most beautiful facial form was mesoprosopic, followed by leptoprosopic. Men perceived the female face slightly more attractive than did women. The viewers' specialty (or lack of it), their age, or their experience did not affect their esthetic preferences. Predictors of esthetic preferences were all 5 anatomical features plus views' sex, but not their dental specialty, age, or experience. Zones of acceptability and also the ideal range of anatomical features were determined.

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Background and objectives Spinal anesthesia (SA) has become a preferred anesthetic technique for elective cesarean sections due to its rapid onset, profound sensory and motor blockade, and minimal impact on the newborn. It lowers the risk of development of thrombus in the veins and pulmonary vessels and permits early ambulation. The most popular technique used to reach the subarachnoid space is the midline technique, though it can be challenging to use in some cases, including those involving elderly patients with degenerative abnormalities in the vertebral column, patients who are unable to flex the vertebral column, noncooperative patients, and hyperesthetic patients. The paramedian technique resolves the challenges posed by the midline technique. It is also relatively easy to carry out. Based on the midline technique's inadequacies, we hypothesized that the paramedian method of SA would be less complicated than the midline approach, with a relatively low occurrence of post-dural puncture headaches (PDPH). Methodology Using the midline and paramedian approaches during cesarean surgeries, we performed an observational descriptive longitudinal study to assess the occurrence and magnitude of PDPH. During an elective cesarean delivery, the seated patient received 2.0-2.5 ml of hyperbaric bupivacaine using the midline or paramedian approaches and a 25 G Quincke's needle at the L3-L4 level. Eighty-four pregnant females with American Society of Anesthesiologists (ASA) physical status II, aged 18 to 35 (n = 42 in each group), were included in this research. The occurrence and severity of PDPH were compared among the groups during a period of five days. Result In comparison to the paramedian group (7.1%), the midline group had a higher incidence of PDPH (14.3%). There was a significant correlation between the technique and the occurrence of PDPH (p = 0.041). The visual analogue scale (VAS) was employed to quantify pain five days after surgery. Pain levels in Group B (paramedian) were consistently less than those in Group A (midline). On day 1, Group B had a mean score of 0.49 ± 1.16 (p = 0.030) compared to Group A's mean VAS score of 1.27 ± 1.95. Day 5 (p = 0.032): Because this tendency persisted through day 5, the p-values for days 2, 3, 4, and 5 remained significant. These findings suggest that the midline technique is linked to a higher occurrence and magnitude of PDPH than the paramedian approach. Conclusion Employing a paramedian technique has been associated with a noteworthy decline in the frequency of PDPH and a decrease in the need for additional analgesics, which could lead to a less severe case of PDPH. The paramedian approach needed fewer attempts and needle passes, which leads to a lower incidence of headache, backache, and injection site pain and better patient satisfaction.

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Drug-induced or associated vasculitis is a prevalent form of vasculitis that resembles primary idiopathic antineutrophil cytoplasmic autoantibody (ANCA) vasculitis (AAV). Cocaine is a diffuse psychostimulant drug and levamisole is a synthetic compound used to cut cocaine. Their abuse may result in a spectrum of autoimmune manifestations which could be categorized into three overlapping clinical pictures: cocaine-induced midline destructive lesion (CIMDL), levamisole-adulterated cocaine (LAC) vasculopathy/vasculitis, and cocaine-induced vasculitis (CIV). The mechanisms by which cocaine use leads to disorders resembling AAV are not well understood. Cocaine can cause autoimmune manifestations ranging from localized nasal lesions to systemic diseases, with neutrophils playing a key role through NETosis and ANCA development, which exacerbates immune responses and tissue damage. Diagnosing and treating these conditions becomes challenging when cocaine and levamisole abuse is not suspected, due to the differences and overlaps in clinical, diagnostic, therapeutic, and prognostic aspects compared to primary idiopathic vasculitides.

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H3 K27M-altered diffuse midline gliomas (DMGs) are highly malignant tumours that arise in the midline structures of the CNS. Most DMGs carry an H3 K27M-mutation in one of the genes encoding for histone H3. Recent studies suggested that epigenetic subgroups of DMGs can be distinguished based on alterations in the MAPK-signalling pathway, tumour localisation, mutant H3-gene, or overall survival (OS). However, as these parameters were studied individually, it is unclear how they collectively influence survival. Hence, we analysed dependencies between different parameters, to define novel epigenetic, clinically meaningful subgroups of DMGs. We collected a multifaceted cohort of 149 H3 K27M-mutant DMGs, also incorporating data of published cases. DMGs were included in the study if they could be clearly allocated to the spinal cord (n = 31; one patient with an additional sellar tumour), medulla (n = 20), pons (n = 64) or thalamus (n = 33), irrespective of further known characteristics. We then performed global genome-wide DNA methylation profiling and, for a subset, DNA sequencing and survival analyses. Unsupervised hierarchical clustering of DNA methylation data indicated two clusters of DMGs, i.e. subtypes DMG-A and DMG-B. These subtypes differed in mutational spectrum, tumour localisation, age at diagnosis and overall survival. DMG-A was enriched for DMGs with MAPK-mutations, medullary localisation and adult age. 13% of DMG-A had a methylated MGMT promoter. Contrarily, DMG-B was enriched for cases with TP53-mutations, PDGFRA-amplifications, pontine localisation and paediatric patients. In univariate analyses, the features enriched in DMG-B were associated with a poorer survival. However, all significant parameters tested were dependent on the cluster attribution, which had the largest effect on survival: DMG-A had a significantly better survival compared to DMG-B (p < 0.001). Hence, the subtype attribution based on two methylation clusters can be used to predict survival as it integrates different molecular and clinical parameters.

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Ciliopathies are characterized by the absence or dysfunction of primary cilia. Despite the fact that cognitive impairments are a common feature of ciliopathies, how cilia dysfunction affects neuronal development has not been characterized in detail. Here, we show that primary cilium-mediated signaling is required cell-autonomously by neurons during neural circuit formation. In particular, a functional primary cilium is crucial during axonal pathfinding for the switch in responsiveness of axons at a choice point or intermediate target. Using different animal models and in vivo, ex vivo and in vitro experiments, we provide evidence for a crucial role of primary cilium-mediated signaling in long-range axon guidance. The primary cilium on the cell body of commissural neurons transduces long-range guidance signals sensed by growth cones navigating an intermediate target. In extension of our finding that Shh is required for the rostral turn of post-crossing commissural axons, we suggest a model implicating the primary cilium in Shh signaling upstream of a transcriptional change of axon guidance receptors, which in turn mediate the repulsive response to floorplate-derived Shh shown by post-crossing commissural axons.

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Purpose: Advancements in gastrointestinal surgery have directed attention toward optimizing recovery, including through the use of feeding methods that reduce prolonged postoperative hospital stays, complications, and mortality, among other undesirable outcomes. This study's primary goals were to identify current peer-reviewed literature reporting the postoperative outcomes of elective bowel surgery and to evaluate the clinical evidence of patients' tolerance to oral feeding following elective bowel surgery. Methods: An exhaustive literature search was conducted via PubMed and Scopus. The search results were screened for potential articles, and articles were assessed for eligibility based on prespecified eligibility criteria. The data were synthesized, and the results were reported and discussed thematically. Results: The database search yielded 1,667 articles, from which 18 randomized controlled trials were chosen for inclusion in this study. This study included 874 early oral feeding (EOF) patients, 865 traditional oral feeding patients, and 91 patients whose postoperative care was unspecified. Data synthesis was done, and meta-analyses were conducted. The results showed that EOF patients required a significantly shorter time to tolerate a solid diet and had shorter hospital stays. In addition, bowel function was restored earlier in EOF groups. Conclusion: The results show good tolerance to EOF, shorter hospitalizations, and faster restoration of bowel function, suggesting that EOF after elective bowel surgery is relatively safe. However, further studies with similar baseline conditions should be conducted to verify these results.

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A case of diffuse midline glioma (DMG), H3 K27-altered, that arose in the right thalamus of a 14-year-old boy is reported. The patient died of tumor spread after a progressive clinical course of approximately 13 months. Histopathologically, the tumor consisted of a mixture of loose proliferation of stellate cells and compact fascicular growth of spindle cells showing a "piloid" feature. Aggregates of globular structures composed of entangled fine glial fibrils ("glio-fibrillary globules, GFGs") were observed. Tumor cells were immunoreactive for S-100 protein and glial fibrillary acidic protein (GFAP), and showed nuclear immunoreactivity for histone H3 K27M and loss of expression of H3 K27me3. Tumor cell nuclei were also negative for alpha-thalassemia/mental retardation syndrome X-linked protein (ATRX) and p16. Although GFGs morphologically resembled "neuropil-like islands" or "neurocytic rosettes" seen in glial or glio-neuronal tumors, they showed immunoreactivity for GFAP, but not for synaptophysin. A GFG is a unique structure that has been described in DMG, H3 K27-altered, by a few investigators. To the best of our knowledge, this structure has not previously been reported in other glial or glio-neuronal tumors. It could be added as a new feature in the histopathological variations of DMG, extending its morphological spectrum. Familiarity with this feature can help prevent misdiagnosis of DMG.

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In occupational therapy, crafts and groups are used as therapeutic tools, but their electrophysiological effects have not been well described. This study aimed to investigate the effects of group crafting on the physiological synchrony (PS) of dyadic heartbeats and on the autonomic activity and electroencephalogram (EEG) of individuals. In this cross-sectional study, individuals' EEG and dyadic electrocardiogram (ECG) were measured during the task in a variety of conditions. The three conditions were alone, parallel, nonparallel. Autonomic activity from the subjects' ECG, PS from the dyadic ECG, and current source density from exact Low Resolution Brain Electromagnetic Tomography (eLORETA) from subjects' EEG were analyzed. Measurements from 30 healthy young adults showed that the parallel condition significantly increased subjects' parasympathetic activity and dyadic PS. Parallel condition and frontal midline theta influenced parasympathetic activity, whereas parasympathetic activity was not associated with PS. Dyadic lag value were correlated with frontal delta, beta, and gamma activity. The results suggest that crafting in parallel groups increases parasympathetic activity and PS through different mechanisms, despite the absence of direct interaction. They also explain the electrophysiological evidence for the use of crafts and groups in psychiatric occupational therapy, such as increased relaxation and PS.

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BACKGROUND: Midline Tremor is defined as an isolated or combined tremor that affects the neck, trunk, jaw, tongue, and/or voice and could be part of Essential Tremor (ET), or dystonic tremor. The clinical efficacy of deep brain stimulation for Midline Tremor has been rarely reported. The Ventral Intermediate Nucleus and Globus Pallidus Internus are the preferred targets, but with variable outcomes. Thalamic Ventral-Oralis (VO) complex and Zona Incerta (ZI) are emerging targets for tremor control in various etiologies. OBJECTIVE: To report on neuroradiological, neurophysiological targeting and long-term efficacy of thalamic Ventral-Oralis complex and Zona Incerta deep brain stimulation in Midline Tremor. METHODS: Three patients (two males and one female) with Midline Tremor in dystonic syndromes were recruited for this open-label study. Clinical, surgical, neurophysiological intraoperative testing and long-term follow-up data are reported. RESULTS: Intraoperative testing and reconstruction of volume of tissue activated confirmed the position of the electrodes in the area stimulated between the thalamic Ventral-Oralis complex and Zona Incerta in all patients. All three patients showed optimal control of both tremor and dystonic features at short-term (6 months) and long-term follow-up (up to 6 years). No adverse events occurred. CONCLUSION: In the syndromes of Midline Tremor of various origins, the best target for DBS might be difficult to identify. Our results showed that thalamic Ventral-Oralis complex/Zona Incerta may be a viable and safe option even in specific forms of tremor with axial distribution.

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Background: Diastasis recti (DR) is a common condition, especially in women after pregnancy, often associated with concomitant hernia defects and defined as a rupture of the midline and a separation of the rectus muscle more than 2 cm. Symptoms related to this are low back pain, urinary incontinence and pelvic prolapse, as well as abdominal bulging and core instability. We analyzed clinical and functional outcomes after treatment of DR alone or associated with midline hernias in 219 patients who underwent a midline reconstruction using miSAR® technique (minimally invasive stapled abdominal wall reconstruction). Methods: Between April 2019 and April 2022, 219 patients were treated with miSAR®. All patients were requested to quantify preoperative and postoperative functional symptoms (urinary incontinence, low back pain, abdominal swelling, and respiratory distress). Results: Twenty-seven men and 192 women underwent the miSAR® technique. The mean body mass index was 23.9 kg/m2. We performed the miSAR® technique in patients affected by incisional midline hernia and umbilical hernia alone or associated with DR. Composite mesh was used in 91.8% of cases. The average operating time was 90 minutes. Seven percent of the patients had postoperative complications, including two retromuscular hematomas, two retromuscular seromas, and one postoperative bleeding event. Two patients were readmitted for bowel obstruction. After surgery, there was symptomatic improvement in urinary incontinence, low back pain, respiratory symptoms, and abdominal swelling; this improvement was confirmed at 6 months and at 1- and 2-year follow-up. At the 1-year follow-up, the overall recurrence rate was 2.83%. Conclusion: miSAR® is a feasible and effective technique and shows promising results in the treatment of DR and ventral hernia. Possible enhancements include use of preoperative Botox to treat defects larger than 6 cm. Multicentric analysis is needed to validate the technique, and longer follow-up is required to assess the recurrence rate.

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BACKGROUND/OBJECTIVE: A contemporary concept states that dental midline deviation towards the direction of facial flow line (FFL) can mask the compromised smile esthetics. This study aimed to identify a range of midline deviations that can be perceived towards or away from the FFL influencing smile esthetics. MATERIALS AND METHODS: A cross-sectional study was conducted using a frontal smile photograph of an adult female. The photograph was altered on Adobe Photoshop software into six different photographs by deviating the dental midlines towards and away from the FFL. A constant deviation of chin towards the left side was incorporated in all the photographs. Forty-three laypersons (LP) and dental professionals (DPs) evaluated those photographs. Independent t-test was used to compare the perception of dental midline deviation between LP and DPs. Simple linear regression was run to identify the factors associated with the scoring. RESULTS: A statistically significant difference was observed for picture two with 4 mm towards FFL in the perception of midline deviation between LP and DPs. LP could not perceive the midline deviations up to 4 mm while DPs were able to perceive deviations above 2 mm. The greater the age the better the scores were and female raters had a greater inclination towards poor scores. CONCLUSIONS: From 2 to 4 mm of midline deviation towards the FFL can be tolerated by LP and DPs. CLINICAL SIGNIFICANCE: These findings underscore the importance of considering facial symmetry in orthodontic and cosmetic dental treatments to optimize smile esthetics.

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Frenum morphology is of pivotal concern while treating patients who desire improved aesthetics and for treating patients with midline diastemas, as it may lead to failure or relapse of orthodontic treatment. Frenum, a thick band of muscle fiber, may present with abnormalities in the shape, size, form, number, and thickness, which may cause gingival recession along with poor oral health. Frenectomy is adopted as the plan of action while treating abnormal frenum cases by resecting the frenum attachment to provide closure of the spacing between the upper anterior teeth, as in the case of midline diastema. Various forms and techniques of frenectomy have been adopted according to the type of frenum attachment and aesthetic concerns of the patients. Amidst the various treatment options available, conventional frenectomy using a scalpel has emerged as a viable solution for treating patients. The surgeons value and praise its exceptional precision and ease of use, and the patients prefer it for its affordability; hence, a functional and aesthetic outcome is achieved via this treatment. This report provides a comprehensive overview of a case of conventional frenectomy with a one-week follow-up.

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BACKGROUND: Spinal cord diffuse midline glioma (DMG) is a relatively rare disease with a poor prognosis and no effective treatment. OBSERVATIONS: A 45-year-old man presented with rapidly progressive paraplegia in both lower extremities, along with bladder and bowel disturbance. Spinal magnetic resonance imaging (MRI) showed a heterogeneously contrast-enhanced mass at the T1-4 levels. A biopsy via T1-4 decompressive laminectomy with expansive duraplasty was performed. The histopathological diagnosis was DMG, H3K27-altered, World Health Organization grade 4. Radiation plus concomitant temozolomide was started; however, follow-up MRI showed tumor progression. Additional hypofractionated radiotherapy (HFRT; 24 Gy/5 fractions) was performed, with bevacizumab (BEV) plus low-dose ifosfamide-carboplatin-etoposide (ICE) as second-line treatment. One month later, MRI showed tumor regression with significant improvement in the peritumoral edema. The chemotherapy regimen was repeated every 4-6 weeks, and the patient remained stable. After 13 courses of chemotherapy, the size of the spinal DMG increased markedly, with dissemination to the temporal lobe. The patient died approximately 21 months after the initial diagnosis. LESSONS: Spinal DMG is a malignant tumor with a poor prognosis. However, treatment with additional HFRT combined with BEV plus low-dose ICE may inhibit tumor progression to prolong the progression-free period and survival. https://thejns.org/doi/10.3171/CASE2464.

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Various oral complications such as gingival recession, restricted lip movement and tooth malalignment are the result of an abnormal frenum. Management of these types of frenum is either frenectomy or frenotomy. Methods for performing frenectomies include the conventional scalpel technique, Z-plasty, Miller's technique, V-Y plasty, lasers, and electrocautery. This case report details the successful management of an abnormal frenum attachment using electrocautery to ease and reduce discomfort to the 19-year-old female patient, causing aesthetic concerns. For its precision, minimal bleeding and post-operative discomfort, electrocautery was chosen. This procedure was performed under local anaesthesia. There were favourable post-operative outcomes as the patient experienced minimal pain and rapid recovery from the surgical site. Significant improvement in gingival health was seen in the follow-up examination. This case demonstrates the efficacy of using electrocautery in managing abnormal frenum attachment while highlighting its benefits over traditional surgical methods for ease and reduced discomfort.

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Introduction: Ectopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary hypoplasia are combined to EPP. Most cases are sporadic, with few reports of familial cases, and many congenital hypopituitarism (CH) cases remain unsolved. Objective: To search for candidate genes associated with this condition, we performed trio-based whole-exome sequencing (WES) on patients with EPP, including two familial cases. Methods: This study included subjects with EPP and PSIS diagnosed by a simple MRI protocol (FAST1.2). We performed two distinct analyses in the trio-based WES. We looked for previously described genes associated with pituitary development. Next, we investigated the whole exome for variants inherited in a pattern consistent with a monogenic etiology. Results: Ten families were evaluated; eight were composed of a child with EPP and healthy parents, one has two affected siblings, and one family has a son and mother with EPP. When analyzing the previously described candidate variants associated with pituitary development, we found variants in GLI2 and FGFR1 in three families. We also found six other variants of interest in three patients: KMT2A, GALR3, RTN4R, SEMA3A, NIPBL, and DSCAML1. Conclusion: The analysis allowed us to find previously reported and not reported GLI2 variants, all inherited from healthy parents, which reinforces the incomplete penetrance pattern of GLI2 variants in the development of EPP and draws attention to possible future functional studies of those variants that have a recurrent expression in CH. We also found novel FGFR1 and SEMA3A variants that suggest an oligogenic mechanism in PSIS and EPP, as seen in patients with hypogonadotropic hypogonadism. We report the first case of a patient with Wiedemann-Steiner syndrome and PSIS, suggesting that the KMT2A gene may be related to pituitary development. Furthermore, the trios' analysis allowed us to find five other variants of interest. Future investigations may clarify the roles of these variants in the etiology of EPP and PSIS.