RESUMEN

BACKGROUND: Although an increasing number of patients with Birt-Hogg-Dubé syndrome (BHD) are being recognized in China, clinical and genetic characteristics are not well-defined. In addition, revised diagnostic criteria for the Chinese population was proposed in 2023, we aimed to explore their utility in clinical practice at a rare lung disease center. METHODS: We retrospectively analyzed the data of 100 consecutive patients with BHD diagnosed according to the revised Chinese BHD criteria, encountered at the First Affiliated Hospital of University of Science and Technology of China from Jan 2017 to June 2023. RESULTS: There were 100 patients (including 63 females) from 65 unrelated families in Eastern China, mostly Anhui Province. The common manifestations were pulmonary cysts (99%), pneumothorax (60%), and skin lesions (77%). Renal cancer and renal angiomyolipoma were detected in 5 patients each. 37% of patients had no family history of BHD. In total, 25 FLCN germline mutations were detected, including 6 novel mutations. In addition to hotspot mutation c.1285delC/dupC (17%), the most common mutations were c.1015 C > T (16%), c.1579_1580insA (14%), and exons 1-3 deletion (11%) in FLCN. Higher risk of pneumothorax was associated with exons 1-3 deletion mutation and c.1177-5_1177-3de1CTC compared to the hotspot mutation c.1285dupC (91% [95% CI: 0.31, 46.82, p = 0.015] and 67% [95% CI: 0.35, 71.9, p = 0.302] vs. 30%, respectively). The average delay in diagnosis was 7.6 years after initial symptoms. Chinese diagnostic criteria were mostly consistent with typical pulmonary presentations with supportive genetic evidence. CONCLUSION: In the Eastern Chinese region, patients with BHD present most commonly with pulmonary cysts associated with pneumothorax and skin lesions. However, low incidence of renal cancer along with unexpected renal angiomyolipoma was observed. Genotypic spectrum differed from that reported from other global regions, and genotype association of pneumothorax warrants further research. The revised Chinese criteria for BHD seem more appropriate in diagnosing BHD in Chinese patients.

Asunto(s)

RESUMEN

We present an analysis of a case initially manifesting as bilateral horizontal gaze palsy, eventually diagnosed as multiple sclerosis (MS) with preclinical systemic lupus erythematosus (p-SLE). The patient, a 25-year-old male, exhibited restricted movement in both eyes. Cranial MRI revealed multiple demyelinating lesions; serum analyses indicated elevated levels of antinuclear antibodies (ANA), anti-Sm antibodies, and anti-nRNP antibodies. Oligoclonal bands were identified in the cerebrospinal fluid. Neurophysiological assessments demonstrated damage to the optic, auditory, and facial nerves. Given the clinical presentation, laboratory findings, and the progression of the disease, the final diagnosis was confirmed as MS associated with p-SLE. The onset of MS with oculomotor disturbances is rare and may be easily confused with neuropsychiatric systemic lupus erythematosus (NPSLE). Furthermore, the differentiation of p-SLE from undifferentiated connective tissue disease (UCTD) in the early stages presents significant challenges. Early identification of risk factors and close monitoring of disease activity is crucial for an accurate diagnosis.

Asunto(s)

RESUMEN

BACKGROUND AND PURPOSE: The diagnostic criteria for myelin oligodendrocyte glycoprotein antibody (MOG-IgG)-associated disease (MOGAD) were published in 2023. We aimed to determine the performance of the new criteria in Latin American (LATAM) patients compared with the 2018 criteria and explore the significance of MOG-IgG titers in diagnosis. METHODS: We retrospectively reviewed the medical records of LATAM (Argentina, Chile, Brazil, Peru, Ecuador, and Colombia) adult patients with one clinical MOGAD event and MOG-IgG positivity confirmed by cell-based assay. Both 2018 and 2023 MOGAD criteria were applied, calculating diagnostic performance indicators. RESULTS: Among 171 patients (predominantly females, mean age at first attack = 34.1 years, mean disease duration = 4.5 years), 98.2% patients met the 2018 criteria, and of those who did not fulfill diagnostic criteria (n = 3), all tested positive for MOG-IgG (one low-positive and two without reported titer). Additionally, 144 (84.2%) patients met the 2023 criteria, of whom 57 (39.5%) had MOG-IgG+ titer information (19 clearly positive and 38 low-positive), whereas 87 (60.5%) patients had no MOG-IgG titer. All 144 patients met diagnostic supporting criteria. The remaining 27 patients did not meet the 2023 MOGAD criteria due to low MOG-IgG (n = 12) or lack of titer antibody access (n = 15), associated with the absence of supporting criteria. The 2023 MOGAD criteria showed a sensitivity of 86% (95% confidence interval = 0.80-0.91) and specificity of 100% compared to the 2018 criteria. CONCLUSIONS: These findings support the diagnostic utility of the 2023 MOGAD criteria in an LATAM cohort in real-world practice, despite limited access to MOG-IgG titration.

RESUMEN

There is conflicting information in the medical literature regarding hemolysis, elevated liver enzymes, low platelet count syndrome (HELLP) and preeclampsia and whether they are subsets of a single disease or distinct complications of pregnancy. In numerous places, HELLP is described as a severe form or later stage of preeclampsia. However, a detailed medical literature search utilizing NCBI, PubMed, and Elicit: The AI Research Assistant clearly demonstrates that HELLP and preeclampsia are distinct diseases. While they share similarities, each one has unique diagnostic criteria, pathophysiology, and treatment. We believe that these entities should be taught as separate entities to medical students and residents because this will result in better patient care. Medical educational theories, including constructivism, demonstrate that initial learning experiences heavily influence future learning. The joining of HELLP and preeclampsia in medical school teaching materials is detrimental to students' and trainees' long-term understanding of these two serious complications of pregnancy.

RESUMEN

Background: Research indicates an inconsistent relationship between age and the prevalence of premature ejaculation (PE), with studies reporting an increase, decrease, or no change with age. Aim: To reexamine the possible relationship between age and PE prevalence, implementing methodological improvements that enhance the likelihood of detecting real effects. Methods: From a sample of 2772 men, we analyzed a subset of 418 classified as having probable or definite PE based on the Premature Ejaculation Diagnostic Tool. We not only analyzed men with lifelong PE (LPE; n = 316) and acquired PE (APE; n = 102) separately but assessed prevalence differences across age groups using an omnibus measure to establish PE status and specific PE diagnostic criteria, individually and in multifactorial combination. Outcome: Prevalence of PE in younger vs older men. Results: LPE, but not APE, showed age-related differences in prevalence, with LPE being lower in the higher age group. This pattern was most discernible when a multifactorial approach was used to establish PE status. Clinical Translation: Older men may be less distressed about their dysfunction or may benefit from diminishing ejaculatory function with age. Strengths and Limitations: This cross-sectional study used an improved methodology to detect age-related differences in PE prevalence. Future studies would benefit from a larger sample size that enables a breakdown of prevalence using a greater number of age categories. Conclusion: According to an improved methodology, men with LPE showed a decline in prevalence with aging. A methodology aimed at exploring this relationship should-at the very least-not only distinguish between LPE and APE subtypes but also consider using a multifactorial method of determining PE status that includes a measure of bother/distress.

RESUMEN

BACKGROUND: The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), categorizes betel-quid use disorder (BUD) under Other (Or Unknown) Substance Use Disorder, and the diagnostic criteria used are adapted from those of Substance Use Disorder. Because different substances have different characteristics, an improved set of diagnostic criteria is required to better detect BUD. OBJECTIVE: The objective of this study was to examine the different measures of accuracy for DSM-5 BUD by using the addiction characteristics defined by the American Society of Addiction Medicine (ASAM). METHODS: A certified psychiatrist conducted face-to-face diagnostic interviews. Questionnaires were administered to assess betel-quid use history, patterns of use, and dependence features. All betel-quid users were evaluated for BUD by using the DSM-5 criteria and addiction characteristics defined by the ASAM. RESULTS: One of the DSM-5 diagnostic criteria for BUD, namely large amount of time spent on obtaining and using betel quid and recovering from betel-quid use, showed the lowest sensitivity of 0.14, lowest diagnostic accuracy of 0.63, and lowest diagnostic odds ratio of 2.61. Another DSM-5 diagnostic criterion, namely continued betel-quid use despite knowledge of physical or psychological problems, had the lowest specificity of 0.49. The diagnostic threshold of five or more DSM-5 BUD criteria showed a sensitivity of 0.86 and a specificity of 0.97. CONCLUSIONS: This study is the first to evaluate the different measures of accuracy for DSM-5 BUD. Given that each addictive substance has unique addictive characteristics, the composition and number of criteria for diagnosing DSM-5 BUD must be reconsidered.

This is the first study to evaluate the different measures of accuracy for DSM-5 betel-quid use disorder.The DSM-5 diagnostic criteria, great deal of time spent on obtain, use, and recover from betel-quid use, has the lowest sensitivity, lowest diagnostic accuracy, and lowest diagnostic odds ratio.The DSM-5 diagnostic criteria, continued betel-quid use despite knowing of physical or psychological problems, has the lowest specificity.The diagnostic threshold for DSM-5 betel-quid use disorder at five or more showed the best sensitivity and a specificity.

RESUMEN

A 68 y.o. woman delivered to the emergency department with severe speech impairment in a somnolent state - 13 points Glasgow Coma Scale. Her relatives described a clinical manifestation: rapidly progressive dementia, visual disturbances, abnormal gait and coordination, retrograde amnesia. A 67 y. o. man delivered to the emergency department with headache, vertigo, abnormal gait and coordination, progressive extremities weakness, disorientation, memory and concentration impairment. His relatives told about extremely rapidly progression of symptoms during last three months. First clinical case presents a Heidenhain variant, second case - Brownell - Oppenheimer variant.

Asunto(s)

RESUMEN

This study aimed to establish a standard treatment for disseminated extranodal large B-cell lymphoma, including intravascular large B-cell lymphoma (DEN-LBCL/IVL), and to validate the clinical diagnostic criteria we proposed. Between 2006 and 2016, 22 patients were enrolled in a clinical trial conducted by the Hokuriku Hematology Oncology Study Group. The first cycle of chemotherapy consisted of dose-reduced cyclophosphamide, doxorubicin, vincristine, and prednisolone (CHOP) with delayed administration of rituximab. From the second to the sixth cycle, patients received conventional rituximab and CHOP therapy. The primary endpoint was overall survival (OS), while the secondary endpoints included the complete response (CR) rate and time to treatment failure (TTF). The results showed a CR rate of 73%, a median OS of 65 months, and a median TTF of 45 months. These findings indicate that patients with DEN-LBCL/IVL were effectively treated with our new chemoimmunotherapy regimen. Our clinical diagnostic criteria are useful for identifying patients who require early intervention.

RESUMEN

Substance-induced psychosis (SIP) is characterized by both substance use and a psychotic state, and it is assumed that the first causes the latter. In ICD-10 the diagnosis is categorized as and grouped together with substance use disorders, and to a large extent also treated as such in the health care system. Though criticism of the diagnostic construct of SIP dates back several decades, numerous large and high-quality studies have been published during the past 5-10 years that substantiate and amplify this critique. The way we understand SIP and even how we name it is of major importance for treatment and it has judicial consequences. It has been demonstrated that substance use alone is not sufficient to cause psychosis, and that other risk factors besides substance use are at play. These are risk factors that are also known to be associated with schizophrenia spectrum disorders. Furthermore, register-based studies from several different countries find that a large proportion, around one in four, of those who are initially diagnosed with an SIP over time are subsequently diagnosed with a schizophrenia spectrum disorder. This scoping review discusses the construct validity of SIP considering recent evidence. We challenge the immanent causal assumption in SIP, and advocate that the condition shares many features with the schizophrenia spectrum disorders. In conclusion, we argue that SIP just as well could be considered a first-episode psychotic disorder in patients with substance use.

RESUMEN

Sarcopenic obesity is the co-existence of obesity and sarcopenia in individuals aged 40-75 years. The Japanese Working Group on Sarcopenic Obesity has developed diagnostic criteria tailored for the Japanese population, considering their unique characteristics compared with European populations. Our algorithm consists of two steps: screening and diagnosis. The screening of obesity mandates using waist circumference and/or body mass index (BMI) based on national standards, while screening for sarcopenia involves the "finger ring test" in addition to the Asian Working Group for Sarcopenia 2019 criteria. The final diagnosis of sarcopenia involves handgrip strength for low muscle strength, the five-times chair stand test for low physical function, and limb skeletal muscle mass (corrected for BMI) for low muscle mass. Obesity is assessed by visceral fat area or body fat percentage. Sarcopenic obesity is then categorized into Stage I, with muscle weakness/loss of function, loss of muscle mass, and obesity; or Stage II, which includes complications. Further clinical validation is needed to refine the consensus and age range. Geriatr Gerontol Int 2024; ••: ••-••.

RESUMEN

BACKGROUND AND PURPOSE: This study was undertaken to compare the sensitivity and specificity of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) diagnostic criteria for multifocal motor neuropathy (MMN) with those of the American Association of Electrodiagnostic Medicine (AAEM). METHODS: Sensitivity and specificity of the two sets of criteria were retrospectively evaluated in 53 patients with MMN and 280 controls with axonal peripheral neuropathy, inflammatory demyelinating polyneuropathy, or amyotrophic lateral sclerosis. Comparison of the utility of nerve conduction studies with different numbers of nerves examined was also assessed. RESULTS: The 2010 EFNS/PNS criteria had a sensitivity of 47% for definite MMN and 57% for probable/definite MMN, whereas the AAEM criteria had a sensitivity of 28% for definite MMN and 53% for probable/definite MMN. The sensitivity of the AAEM criteria was higher when utilizing area compared to amplitude reduction to define conduction block. Using supportive criteria, the sensitivity of the 2010 EFNS/PNS criteria for probable/definite MMN increased to 64%, and an additional 36% patients fulfilled the criteria (possible MMN). Specificity values for definite and probable/definite MMN were slightly higher with the AAEM criteria (100%) compared to the EFNS/PNS criteria (98.5% and 97%). Extended nerve conduction studies yielded slightly increased diagnostic sensitivity for both sets of criteria without significantly affecting specificity. CONCLUSIONS: In our patient populations, the 2010 EFNS/PNS criteria demonstrated higher sensitivity but slightly lower specificity compared to the AAEM criteria. Extended nerve conduction studies are advised to achieve slightly higher sensitivity while maintaining very high specificity.

RESUMEN

BACKGROUND: Current epidemiological diagnostic criteria for hemorrhagic shock and encephalopathy syndrome (HSES) may not be optimal for early identification in clinical settings. We analyzed the specific timing at which Bacon's criteria were met after encephalopathy onset. METHODS: This retrospective observational study was conducted at the National Center for Child Health and Development, a quaternary-care facility that receives critically ill patients from a wide geographic area, between January 2014 and December 2023. Cases of HSES were identified using Bacon's criteria. Data on detailed time courses after seizure onset were extracted from medical records. The primary outcome was the time at which Bacon's criteria were met, measured using median values. RESULTS: Of the 206 patients with acute encephalopathy, 13 had HSES. Four were excluded due to insufficient data. Only one patient met Bacon's criteria based on initial examinations, while eight met them after presentation. The median time from seizure onset to meeting Bacon's criteria was 4 h. Early diagnostic markers included abnormal blood coagulation, renal dysfunction, and elevated enzyme levels. The median time to initiation of steroid pulse therapy was 11.5 h; it was 9 h for plasma exchange. Irreversible brain damage, indicated by cerebral edema, occurred at a median of 7 h post-seizure. CONCLUSIONS: The existing criteria fail in the context of early diagnosis. Routine practice should include early blood tests, including those for coagulation abnormalities, for patients with febrile status epilepticus to identify HSES at an early stage. Future research should validate new diagnostic criteria and explore additional interventions.

Asunto(s)

RESUMEN

In 2022, the European Society of Cardiology (ESC) and the European Respiratory Society (ERS) proposed new diagnostic criteria for pulmonary hypertension (PH). These criteria include significant changes to the definitions of pulmonary hemodynamic indices. Specifically, the threshold for mean pulmonary artery pressure (mPAP) has been lowered from ≥25 mmHg to >20 mmHg, and the threshold for pulmonary vascular resistance (PVR) has been adjusted from ≥3 Wood units (WU) to >2 WU. Additionally, the diagnostic criterion for exercise-induced PH has been reintroduced. To differentiate between non-severe and severe PH associated with lung disease, a differential threshold of 5 WU for PVR has been proposed. However, the threshold for mean pulmonary artery wedge pressure (PAWP) remains unchanged. While these new criteria could provide a more refined approach to clinical practice, they may also raise clinical concerns and questions regarding the diagnosis and management of PH.

RESUMEN

The management of urinary tract infection (UTI) in infants and children has changed significantly over the past few decades based on scientific evidence that questioned the efficacy of strategies used to prevent kidney injury and subsequent progression to chronic kidney disease, which is very unlikely in most paediatric cases. However, there is still substantial heterogeneity in its management and uncertainty regarding the diagnosis, indication of imaging tests, treatment or follow-up in these patients. The Spanish clinical practice guideline has been updated through the review of the literature published since 2009 and a rigorous evaluation of current clinical practice aspects, taking into account the evidence on the benefits of each intervention in addition to its risks and drawbacks to attempt to provide more precise recommendations.

Asunto(s)

RESUMEN

OBJECTIVE: To identify factors associated with neonatal respiratory distress (NRD) in early Gestational diabetes mellitus (eGDM). DESIGN: Nested case-control analysis of the TOBOGM trial. SETTING: Seventeen hospitals: Australia, Sweden, Austria and India. POPULATION: Pregnant women, <20 weeks' gestation, singleton, GDM risk factors. METHODS: Women with GDM risk factors completed an oral glucose tolerance test (OGTT) before 20 weeks: those with eGDM (WHO-2013 criteria) were randomised to immediate or deferred GDM treatment. Logistic regression compared pregnancies with/without NRD, and in pregnancies with NRD, those with/without high-dependency nursery admission for ≤24 h with those admitted for >24 h. Comparisons were adjusted for age, pre-pregnancy body mass index, ethnicity, smoking, primigravity, education and site. Adjusted odds ratios (95% CI) are reported. MAIN OUTCOME MEASURES: NRD definition: ≥4 h of respiratory support (supplemental oxygen or supported ventilation) postpartum. Respiratory distress syndrome (RDS): Supported ventilation and ≥24 h nursery stay. RESULTS: Ninety-nine (12.5%) of 793 infants had NRD; incidence halved (0.50, 0.31-0.79) if GDM treatment was started early. NRD was associated with Caesarean section (2.31, 1.42-3.76), large for gestational age (LGA) (1.83, 1.09-3.08) and shorter gestation (0.95, 0.93-0.97 per day longer). Among NRD infants, >24 h nursery-stay was associated with higher OGTT 1-h glucose (1.38, 1.08-1.76 per mmol/L). Fifteen (2.0%) infants had RDS. CONCLUSIONS: Identifying and treating eGDM reduces NRD risk. NRD is more likely with Caesarean section, LGA and shorter gestation. Further studies are needed to understand the mechanisms behind this eGDM complication and any long-term effects.

RESUMEN

OBJECTIVE(S): This study investigated the frequency and intensity of vestibular migraine (VM) symptoms using Ecological Momentary Assessment (EMA). This approach was intended to provide insights into the day-to-day experiences of individuals with VM, contributing to a more comprehensive understanding of this condition. METHODS: Participants reported symptoms to an automated text system, rating their dizziness over the prior 24 h as none, mild, moderate, or severe. Definitive Dizzy Days (DDDs) were defined as days with moderate or severe dizziness. A student's independent group t-test was used to compare the number of DDDs between VM and probable VM subjects. RESULTS: Sixty-six subjects were included, with an average of 29 days of pre-intervention data (SD = 1.4). The average number of days with no dizziness was 3.5 (SD = 6.5), mild dizziness was 9.1 (SD = 6.7), moderate dizziness was 11 (SD = 6.1), and severe dizziness was 5.4 (SD = 6.3). Out of the 66 patients, 52 were classified as VM and 14 as pVM. The average number of DDDs was not significantly different between VM (17.0, SD = 8.3) and pVM (15.3, SD = 10.0) patients, with a two-tailed p-value of 0.44. CONCLUSION: With EMA, we found that the average subject with VM had some degree of dizziness almost every day, and more than 15 DDDs per month. LEVEL OF EVIDENCE: III Laryngoscope, 2024.

RESUMEN

The diagnosis of childhood schizophrenia was widely employed in the U.S. from the 1930s to the late 1970s. In this paper I will provide a history of the diagnosis. Some of the earliest publications on childhood schizophrenia outlined the notion that childhood schizophrenia had different types. I will outline the development of these types, outlining differing symptoms and causes associated with various types. I outline how different types of childhood schizophrenia were demarcated from one another primarily on age of onset and the type of psychosis which was believed to be present. I will outline how various child psychiatrists viewed the types of childhood schizophrenia posited by other child psychiatrists. I will outline the process of abandoning childhood schizophrenia. I use my history to challenge what I believe are misconceptions about childhood schizophrenia. Also, I will use my history to draw lessons for thinking about modern notions of autism. It shows potential problems around formulating psychiatric diagnoses around causes and how compromises might be needed to prevent those problems. Additionally, childhood schizophrenia shows that psychiatrists could formulate subtypes that are not based upon functioning levels and that we can conceive of subtypes as dynamic whereby someone can change which subtype they exhibit over time.

Asunto(s)

RESUMEN

The akinetic crisis is a well-known, rare, potentially life-threatening condition in Parkinson's disease with subacute worsening of akinesia, rigidity, fever, impaired consciousness, accompanying vegetative symptoms and transient dopa-resistance. The akinetic crisis was historically supposed to be a "withdrawal syndrome" in the sense of discontinuation of dopaminergic medication. Recently, other "withdrawal syndromes" as the specific "dopamine agonist withdrawal syndrome" or "deep brain stimulation withdrawal syndrome" have been described as emergency situations with specific subacute symptom constellations. All three conditions require immediate start of the adequate therapy to improve the prognosis. Here, the diagnostic criteria and treatment options of these three acute, severely disabling syndromes will be reported along the current guidelines of the German Parkinson Guideline Group.

RESUMEN

BACKGROUND: Septic arthritis, whether native or prosthetic, poses a significant challenge in clinical practice due to its potentially devastating consequences. Despite its clinical importance, there remains a dearth of comprehensive studies and standardized diagnostic criteria, particularly in the Kingdom of Saudi Arabia. AIM: To investigate the epidemiology, microbiological profiles, and clinical characteristics of native and prosthetic septic joints in the Saudi Arabian population. METHODS: Medical records of patients diagnosed with septic arthritis between January 1, 2015, and December 31, 2022, were retrospectively reviewed. Data regarding patient demographics, clinical presentation, microbiological cultures, treatment modalities, and outcomes were analyzed. RESULTS: In a retrospective review of 52 cases of septic arthritis, a balanced gender distribution was observed (1:1 ratio), with the knee being the most commonly affected joint (80.8%). Methicillin-resistant Staphylococcus aureus predominated in native joints (24.2%), while Brucella spp. was more prevalent in prosthetic joints (21.1%). Joint preservation was achieved in most cases (84.6%), with no significant difference in clinical features between native and prosthetic joints. However, certain comorbidities were more common in native joint cases, including renal impairment (P = 0.002), hemodialysis (P = 0.004), heart disease (P = 0.013), and chronic liver disease (P = 0.048). At the same time, osteoarthritis was more prevalent in prosthetic joint cases (P = 0.013). Vancomycin was the most frequently used antibiotic (26.9%), and most patients received antibiotics before joint aspiration (57.7%). Surgical intervention, predominantly arthrotomy, was required in most cases (32.7%). Notably, a significant association was found between joint type and mortality (odds ratio = 0.587, P = 0.048), as well as the Charlson comorbidity index and mortality (P = 0.001). CONCLUSION: This study highlighted distinctive microbiological profiles and etiological factors in septic arthritis cases in the Saudi Arabian population.