RESUMEN

Introduction and importance: Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder with early childhood onset. It is characterized by ataxia, oculocutaneous telangiectasia, immunodeficiency, and lymphoid-origin cancer predisposition due to ataxia telangiectasia mutated gene mutations. Case presentation: The authors present a 19-year-old girl with spastic movements since 18 months, leading to wheelchair dependence. Ocular telangiectasia, dystonic posture, and slurred speech were evident. Diagnosis involved elevated alpha-fetoprotein levels and typical brain imaging. Clinical discussion: A-T due to ataxia telangiectasia mutated gene mutations located on chromosome 11q22-23. It has varied presentations categorized by age and features. Timely diagnosis relies on characteristic symptoms, lab findings, and imaging. Radiation sensitivity and increased cancer risk underscore cautious radiation use. Conclusion: A-T is a complex disorder with no cure. Genetic counseling for parents is vital. Its poor prognosis due to infection susceptibility and cancer risk necessitates supportive care. Comprehensive management, including genetic counseling and careful surveillance, is imperative.

RESUMEN

BACKGROUND: Diabetes insipidus is a syndrome characterized by polyuria, which is almost always associated with polydipsia. The most frequent cause is central diabetes insipidus, which is the result of an inadequate secretion of the antidiuretic hormone, and diagnosis involves differentiating it from other causes of polyuria and polydipsia. CASE PRESENTATION: Here, we present a clinical case of a previously healthy 13-year-old Nepali boy, who, in December 2022, was found to have intense polydipsia accompanied by polyuria. He had bilateral lower limb weakness at the time of presentation. Biochemical evaluation demonstrated raised serum sodium (181 mEq/L), serum creatinine (78 µmol/L), and serum uric acid (560 µmol/L) with suppressed serum potassium (2.7 mEq/L), which was the major concern to the clinicians. Further laboratory workup revealed an increased serum osmolarity (393.6 mOsm/kg) with reduced urine osmolarity (222.7 mOsm/kg). On contrast magnetic resonance imaging of the brain, a thick-walled third ventricular cyst with bilateral foramen obstruction, thin membrane-like structure at top of aqueduct of Sylvius with gross obstructive hydrocephalus (inactive), and compressed and thinned pituitary gland with no bright spot was observed. The laboratory findings, radiological findings, and case presentation provided the provisional diagnosis of diabetes insipidus due to hydrocephalus and third ventricular cyst. CONCLUSIONS: Central diabetes insipidus due to hydrocephalus, though rare, can have serious complications including the predilection to develop a deficit of other pituitary hormones. Thus, even if hydrocephalus is dormant with normal intracranial pressure, it must be addressed during investigations of central diabetes insipidus.

Asunto(s)

Quistes , Diabetes Insípida Neurogénica , Diabetes Insípida , Hidrocefalia , Masculino , Humanos , Adolescente , Diabetes Insípida Neurogénica/complicaciones , Diabetes Insípida Neurogénica/diagnóstico , Poliuria/complicaciones , Poliuria/diagnóstico , Ácido Úrico , Diabetes Insípida/complicaciones , Diabetes Insípida/diagnóstico , Vasopresinas , Polidipsia/etiología , Polidipsia/complicaciones , Hidrocefalia/complicaciones , Quistes/complicaciones

RESUMEN

BACKGROUND: Human oral cavity contains many microorganisms, the habitat of which may be changed by complete denture among edentulous people. The complete dentures favor aggregation of microorganism. The aim of this study was to identify the microorganisms present in the complete dentures of old age people of Chitwan and assess the sensitivity pattern of the microorganisms to the common antibiotics. METHODS: A descriptive cross-sectional study was conducted at Chitwan Medical College, Chitwan, Nepal among 45 old age people who have been wearing dentures above one year. The duration of the study was from 18th Nov 2021 to 12th May 2022. Swab was taken from the polished and tissue surfaces of both maxillary and mandibular dentures in the Department of Prosthodontics while the laboratory-based experiments were conducted in the Department of Microbiology. Antibiotic sensitivity was also done. The data was analyzed using Statistical Package for Social Science (SPSS) version 16.0. Descriptive statistics were used. The data was presented in form of frequency, percentage, mean and standard deviation. RESULTS: Streptococcus spp. was predominant microorganism followed by Coagulase-negative Staphylococci and Staphylococcus aureus. The highest sensitivity pattern was observed to Amikacin, Nalidixic acid and Ciprofloxacin while the most resistant antibiotics were Amoxicillin/clavulanic acid and Cefixime. Escherichia coli was sensitive to all the tested antibiotics. CONCLUSIONS: In this study, Streptococcus spp. followed by Coagulase-negative Staphylococci and Staphylococcus aureus were the most frequently identified microorganisms from the dentures of old age people. Amikacin, Nalidixic acid and Ciprofloxacin were highly sensitive among the people of old age.

RESUMEN

BACKGROUND: Diabetes complication poses a new challenge in Nepal as the disease is becoming endemic. Identifying risk factor for diabetes can be an essential step in preventing complication related to diabetes. Abnormal Uric acid and lipid profile are the important risk indicators of diabetes mellitus complications, so the study was done to know the association between uric acid and lipid profile in type 2 diabetes. METHODS: A cross-sectional study was done from 118 patients with type 2 diabetes mellitus visiting Nepal Medical College and Teaching Hospital. Three ml of venous blood was analyzed for fasting blood glucose, uric acid, and lipid profile. Correlational analysis was done between fasting blood glucose with triglycerides, high density lipoproteins and uric acid. RESULTS: A significant positive correlation between fasting blood glucose and triglyceride (r =.211, p = .022) was found in diabetic. There was significant negative correlation of fasting blood glucose with uric acid (r = -.196, p =.034) and high-density lipoprotein cholesterol (r = -.181, p = .049). Uric acid was also found to have significant positive correlation with triglyceride (r = .235, p = .010) and negative correlation with high density lipoprotein cholesterol (r = -.420, p = .000). CONCLUSIONS: Negative correlation of serum uric acid with fasting blood glucose and high-density lipoprotein and positive correlation with triglycerides suggests a possible connection of uric acid as a risk factor for diabetes.

Asunto(s)

Diabetes Mellitus Tipo 2 , Humanos , Ácido Úrico , Glucemia , Estudios Transversales , Nepal/epidemiología , Lipoproteínas HDL , Triglicéridos

RESUMEN

Despite the rare occurrence of vitamin D toxicity in infants, increased use of vitamin D formulations as well as incorrect supplement concentration by manufacturing pharmaceutical companies, has contributed to an increased incidence of vitamin D toxicity. Over-the-counter vitamin D preparation constitutes variable concentrations that can render life-threatening consequences in children. Case presentation: Here, we present a case of a 2.5-month-old infant presenting with failure to thrive. The clinical presentations were nasal blockage, noisy breathing, poor feeding, lethargy, dehydration, and fever for 3 days with decreased appetite. Her urine culture report showed a urinary tract infection. The biochemical evaluation demonstrated raised total serum calcium (6.0 mmol/l) and serum 25-hydroxy vitamin D (>160 ng/ml) with suppressed parathyroid hormone concentration (3.7 pg/ml), which was the major concern to the clinicians. On ultrasonographical examination, nephrocalcinosis was observed. Further evaluation unveiled that the vitamin D supplement administered to the infant constituted a deucedly high dose of 42 000 IU instead of the recommended dose of 0.5 ml of 800 IU. Clinical discussion: The patient developed vitamin D toxicity after consuming a mega dose of vitamin D supplements due to a manufacturer error. Conclusions: Hypervitaminosis D has severe life-threatening consequences like failure to thrive in otherwise healthy-born infants. Regular monitoring of vitamin D supplements administered in infants by medicinal practitioners and strict supervision of all stages of the production process by pharmaceutical companies is crucial to prevent complications from supplement overdose.

RESUMEN

Attacks by elephants, the largest of the "large animals," produce many fatalities a year. Most attacks are provoked, although rogue elephants are occasionally responsible. Trampling, goring, tossing the individual with the trunk, or crushing with the knees produces the injuries. Injuries from encounters with large animals represent a significant health risk for rural communities. Wild-animal-inflicted maxillofacial injuries are rare, and limited literature is available describing their management. We present a case of severe maxillofacial injuries caused by the attack of a rogue elephant.