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11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report
(Nepal Medical Association, 2023) Shah, Bipesh Kumar; Koirala, Richa; Dhamala, Sumit; Bhatta, Mukesh; Khatiwada, Shekhar
Abstract Congenital adrenal hyperplasia occurs due to enzymatic defects in the adrenocortical steroidogenesis. 11β hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia which presents with hypertension and features of androgen excess. Hypertension has also been found to cause end-organ damage in children with 11β hydroxylase deficiency. We report a case of a 10-year-old male child with hypothyroidism under thyroid replacement therapy, presenting with features of severe hypertension and androgen excess, later on, diagnosed as congenital adrenal hyperplasia due to 11β hydroxylase deficiency.
64-Slice CT Scan in Kathmandu Medical College Teaching Hospital
(Kathmandu University, 2008) Karki, DB; Neopane, A; Regmi, S; Acharya, S
Abstract 64-slice CT scan is a versatile newly introduced imaging technology, which is capable of diagnosing various diseases from head to toe. The 64-slice CT coronary angiography has a negative predictive value of 100%. Virtual images of bronchi, stomach and colon can provide definite diagnosis. Coronary artery calcification score which predicts coronary artery disease can be calculated by 64-slice CT scan. Key words: coronary angiography, coronary calcification
A Case of Colo-Colic Intussusception Revealing a Constitutional Mismatch Repair Deficiency Authors
(Perinatal Society of Nepal (PESON), 2025) Mansuy, Ludovic; Destinval, Christelle; Lemelle, Jean-Louis; Chastagner, Pascal
Abstract: A 15-year-old boy presented with asthenia, dyspnea, and dizziness. On examination, he had many café-au-lait spots. The blood tests revealed an iron deficiency anemia at 28 g/l. A CT scan demonstrated a right colo-colonic intussusception. A laparoscopic right hemicolectomy was performed. Histology confirmed the existence of a colonic adenocarcinoma in situ and several other polyps as part of a Constitutional Mismatch Repair Deficiency Syndrome.
A Case of Dirty Dermatosis (Dermatitis Neglecta)
(Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON), 2022) Henry, Daniel; Henry, David
Abstract: Dermatitis Neglecta, also known dermatosis neglecta refers to a dermatological condition that occurs from lack of hygiene. It is a condition that results from insufficient frictional cleansing leading to accumulation of corneocytes sebum and sweat eventually resulting in hyperpigmented patch or verrucous plaque. Regular bathing is very important for keeping the skin clean. Bathing and scrubbing the skin helps to remove germs, oils, and dead skin cells. Lack of bathing for a long time can also cause Dermatitis Neglecta. We are presenting a case of 22 years old boy who had itching in the scrotum for 4 years and he was being treated for scabies and tinea cruris by various practitioners. On observation we found it to be covered with dark coloured raised lesions, after we rubbed it with cotton and spirit, we found it to be Dermatitis Neglecta of scrotum. Terra firma forme dermatosis is differentiated from it by presence of sufficient hygiene, absence of corn flake-like brownish scales and successful annihilation of pigmentation with isopropyl alcohol in the former and effective clearance of lesions with soap and water in the latter. However, isopropyl alcohol is operative in both disorders.
A Case of Juvenile Polyposis Syndrome in a 13-year-old: A Case Report
(Nepal Medical Association, 2023) Bhandari, Abashesh; Basnet, Bhupendra Kumar; Chaudhary, Ashlesha; Chaudhary, Aashutosh
Abstract Juvenile polyposis syndrome is an autosomal dominant syndrome characterised by hamartomatous polyps in the gastrointestinal tract and has a high risk for colon carcinoma. This case explores the presentation of multiple polyps throughout the gastrointestinal tract, located in the stomach, proximal duodenum, colon, rectum and up to the anal canal. The locations and number of these polyps themselves were not typical and the histopathological studies suggested the condition to be an inflammatory fibroid polyp, which is a rare, benign and solitary neoplasm. Prompt and accurate diagnostic modality remains the keystone in the identification and management of such condition which was a limitation in this case as the patient was lost to follow up before a definitive diagnosis was made.
A case of left atrial myxoma: Anaesthetic management
(Kathmandu University, 2006) Pradhan, B; Acharya, SP
Left Atrial Myxomas are notorious for their varied presentations. We describe one such case which initially presented with hemiparesis and seizures and was diagnosed as cerebral infarction and treated accordingly and decompression craniotomy with hinge flap was done for raised ICP and impending brain herniation. The main cause was a left atrial myxoma, which was diagnosed only in follow up. The myxoma has embolised to give rise to cerebral infarction. The LA myxoma was then successfully operated under general anaesthesia and Cardiopulmonary bypass (CPB). Key words: Hemiparesis, Cerebral infarction, Left Atrial (LA) Myxoma
A Case of Precocious Puberty in a Setting with Limited Resources
(Kathmandu University, 2011) Paudel, KP; Giri, S; Shrestha, PS; Shrestha, L; Thapa, SB; Shrestha, M
ABSTRACT Precocious puberty is a rare condition characterized by the development of secondary sexual characteristics before the median age for the sex. It is either gonadotropin dependent also called as central or gonadotropin independent also known as peripheral type. Hypothalamamic Hamartoma is a common cause of the central or precocious puberty due to organic brain lesion. Here we present a two year male who presented us with precocious puberty due to a hypothalamic Hamartoma. KEY WORDS hypothalamic hamartoma, precociuos puberty
A Case of Rare Choroidal Tumor, Choroidal Osteoma
(Kathmandu University, 2017) Shah, RK; Byanju, R
ABSTRACT Choroidal osteoma is a rare benign tumor of unknown etiology, commonly found in young asymptomatic females in their second or third decade of life. It typically appears as an orange-yellow to yellow-white lesion in juxtapapillary region which can extend over to involve macula. Lesion solely located in macular region is less common. Diagnosis is based on fundoscopic appearance and findings of ancillary tests like B scan ultrasonography, optical coherence tomography (OCT), fundus fluorescein angiography (FFA) and computerized tomography (CT) scan. We report a case of unilateral macular choroidal osteoma in a fifteen-year-old girl with normal vision. KEY WORDS Benign tumor, Choroidal osteoma, Macula
A Case of Refractory Idiopathic Tumoral Calcinosis Cutis
(Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON), 2016) Siddiqui, S.; Ahmed, G.; Qaisar, H.; Wahid, Z.; Talat, H.
Abstract: A case of idiopathic tumoral calcinosis cutis in a normocalcemic patient. The lesions were localized to multiple large and small joints throughout the body and confirmed on biopsy. The lesions are refractory to intralesional steroids, aluminum hydroxide and diltiazem after 5 months. The patient is being considered for surgical intervention for large lesions while he will be further tried on dialitiazem for the smaller ones. Keywords: Calcinosis Cutis, Tumoral, Refractory, Diltiazem
A Case of Restricted Disclosure Due to Anticipatory Stigma and Shame In An 11year Old Survivor of Sexual Assault
(Nepal Paediatric Society (JNPS), 2022) Anyanwu, Onyinye Uchenna; Uro-Chukwu, Henry Chukwuemeka; Obuna, Johnson
Abstract: Sexual violence a common form of GBV may often be hidden by survivors for reasons such as, shame, and anticipatory stigma. Myths, can make certain acts of sexual violence appear acceptable than peno-vaginal penetration. The effect of non or restricted disclosure is that clients may not receive complete care from the existing health systems. We report a case of restricted disclosure resulting from anticipatory stigma by a girl child who was sexually assaulted by a male neighbor.
A Case of Squamous Cell Carcinoma of Skin Subsequent to Subcutaneous Foreign Body
(Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON), 2014) Anwar, P; Mubashir, S; Hassa, I; Arif, T
Abstract: Squamous cell carcinoma (SCC) of the skin is one of the most common non melanoma skin cancers (NMSC), along with basal cell carcinoma (BCC). Besides ultraviolet radiation, the role of exposure to industrial agents, ionizing radiation and areas of chronic inflammation is associated with the development of SCC. SCC may also be associated with foreign bodies. We report a rare case of cutaneous SCC in an elderly Kashmiri female, developing subsequent to subcutaneous non metallic foreign body, which was successfully excised with negative margins, and transposition flap closure. Keywords: Squamous cell carcinoma, Foreign body, Transposition flap closure
A case of Synchronous Malignancy of Stomach and Kidney
(Kathmandu university, 2013) Aslam, S SM; Sridhar, H; Rao, MY
ABSTRACT The synchronous occurrence of primary renal cell carcinoma with gastric cancer is very rare. We report a case of 41 year old male who presented on 05/07/2011 to M S Ramaiah hospital, Bangalore with history of fever, pain abdomen and malena. Ultrasound abdomen and pelvis showed large heterogenous mass arising from the upper pole of left kidney. Computed tomography of the abdomen showed left renal cell carcinoma. Renal biopsy showed features consistent with renal cell carcinoma – clear cell type. Oesophagogastroduodenoscopy revealed gastric polypoidal growth. Gastric biopsy from the growth revealed poorly differentiated adenocarcinoma of stomach. We report this case to highlight a rare occurrence of synchronous malignancy of stomach and kidney. KEYWORDS Gastric adenocarcinoma, gastric cancer, renal cell carcinoma, synchronous malignancy
A case of Total Non-rotation of gut - A case Report
(Nepal Paediatric Society (JNPS), 2023) Kundagrami, Shibam; Basak, Siddhartha; Das, Uddalok
Abstract: Around one in every 500 infants exhibit intestinal malrotation. It is a congenital abnormal position of the bowel within the peritoneal cavity due to failure of or improper rotation of the gut tube in embryonic life. Classic clinical presentation of malrotation in a newborn is bilious vomiting with or without abdominal distention. In paediatric patients the typical presentation is bilious vomiting patients. Here we report a case of a four year old male child with complaints of recurrent vomiting and constipation since infancy. Though malrotation mainly presents in infancy, delayed diagnosis is possible. The importance of radiologic investigation is discussed in the context of avoiding potentially fatal intestinal ischemia.
A case report and overview of organophosphate (OP) poisoning
(Kathmandu University, 2006) Bhattarai, MD; Singh, DL; Chalise, BS; Koirala, P
A case of organophosphate (OP) poisoning who recovered after requiring almost 1000 mg of atropine, 10 gm of PAM and ventilatory support for 7 days is presented here. The overview of organophosphate poisoning and its management is given. With the approach adopted, the mortality reported in the general medicine unit in the central hospital in Nepal is 7.4%. The two important aspects of the management are vigilance of the atropine drip, especially at night, and other physical and psychological support care of the patients. Key words: Organophosphate poisoning, atropine drip, counselling, Nepal.
A case report of Gilbert Syndrome
(Kathmandu University, 2003) Manandhar, SR; Gurubacharya, RL; Baral, MR; Manandhar, DS
Gilbert syndrome is benign, often familial condition characterized by recurrent but asymptomatic mild unconjugated hyperbilirubinemia in the absence of haemolysis or underlying liver disease. If, it becomes apparent, it is not until adolescence and then usually in association with stress such as intercurrent illness, fasting or strenuous exercise. Virtually all patients have decreased level of UDP- Glucuronosyltransferase, but there also is evidence for a defect in hepatic uptake of bilirubin as well. This case is reported due to its rarity. The prevalence of Gilbert syndrome in U.S is 3-7% of the population. Keywords: Gilbert Syndrome, familial non-haemolytic jaundice, hereditary non-haemolytic bilirubinaemia, low- grade chronic hyperbilirubinemia
A Clinical Study of Steroid Induced Dermatoses
(Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON), 2018) Parajuli, Sudip; Paudel, Upama; Poudyal, Amod Kumar; Pokhrel, Dinesh Binod
Abstract: Introduction: Steroid induced dermatoses on face are one of the common presentations in Dermatological practice. Objectives: 1) Understand the clinical patterns of adverse effects of long term abuse of topical steroid on face and 2) Assess the factor which promotes its abuse. Materials and Methods: This was a descriptive exploratory cross-sectional study carried out from December, 2013 through November, 2014. A total of 39 patients fulfilling the inclusion criteria were enrolled into the study. All the study variables were recorded using preformed structured questionnaire and analyzed. Results: The following effects of steroid abuse on face were seen: pruritus (38.5%), burning (15.4%), eythema (74.4%), telangiectasias (66.7%), acneiform eruptions (59%), comedones (35.9%), xerosis (55.1%), photosensitivity (51.3%), rebound phenomenon (38.5%) and others (38.5%). Most of them used steroids on recommendation of their friends (38.5%) and pharmacists (20.5%). All of them used steroid for different dermatoses on their face. Limitations: This is a hospital-based small-scale study and might not be true picture of problem in the community. Conclusion: Long term use of steroid on face results in different clinical presentations. Most of the patients used steroid on recommendation of their friends facilitated by easy availability of the drug over- the -counter. Keywords: Comedones, erythema, non prescription drugs, papules, pustules, rosacea, steroids
A Clinico-histopathological Diagnosis of Trichoadenomas on Nose: A Case report Authors
(Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON), 2025) Shrestha, Elisha; Pradhan, Namrata; Thapa, Diksha; KC, Sharnawi; Karn, Dharmendra
Abstract: Trichoadenoma of Nikolowski is a slow-growing, well-differentiated, rare, benign tumor closely resembling the infundibular portion of the hair follicle. Reporting such cases adds to the limited literature and helps clinicians better recognize and understand the condition. Due to its clinical and histopathological resemblance to other skin tumors, accurate diagnosis can be challenging. Reporting cases aids in refining diagnostic approaches. We report a case of a 51-year-old female with slow-growing skin-colored nodules over the tip of the nose and left nasal ala, with characteristic histopathological features suggestive of trichoadenoma.
A Combination Of Vein Of Galen Aneurysmal Malformation And Bovine Aortic Arch In Newborn: A Case Report
(Nepal Medical Association, 2025) Mandal, Krishna Deo; Subedi, Kalpana; Amatya, Unnati; Pathak, Janak
Abstract Vein of Galen aneurysmal malformation is a rare intracranial arteriovenous malformation, coexistence with aortic arch anomalies is even more uncommon, carry high risk of morbidity and mortality related to endovascular procedure and poor neurological outcome. Vein of Galen aneurysmal malformation is a dilated venous pouch, a persistence of the embryonic median prosencephalic vein of Markowski. Often presents with high output cardiac failure, severe pulmonary hypertension, and systemic steal leading to hemodynamic compromise and multi organ failure. Bicêtre score scale determines the potential treatment option and prognosis of the disease. Aim of the medical treatment is initial stabilization of life threatening condition of severe heart failure followed by the definitive treatment with endovascular embolization. Treatment is a big challenge, specially if coexistence with aortic arch anomalies which increases the morbidity and mortality. We describe a term neonate found to have vein of Galen aneurysmal malformation associated with bovine aortic arch.
A Comparative Cross-sectional Study on Determinants of Birth Asphyxia in Referral and District Hospital Settings
(Perinatal Society of Nepal (PESON), 2025) Koirala, Jaya; Kharde, Sangeeta; Poudel, Pradish; Takahashi, Kumi; Dahal, Pratikshya Sharma; Jamir, Arenlila
Abstract: Introduction : Birth asphyxia is a leading cause of neonatal morbidity and mortality in India. This study aimed to identify determinants of birth asphyxia among mothers delivering at a referral centre and a district hospital in the northern region of southern India. Methods : A cross-sectional comparative study was conducted from January to June 2023 involving 334 mothers (167 from each facility) selected through purposive sampling. Data were analyzed using Excel and SPSS. Descriptive and inferential statistics, including binary logistic regression, were applied to identify factors associated with birth asphyxia. Results : The mean maternal age was 23.83 ± 3.75 years. Maternal anemia, alcohol consumption, primiparity, and low family income were significantly associated with birth asphyxia across both settings. Moderate anemia notably increased risk at the referral centre (OR = 45.02, p = 0.01), while mild anemia was a significant risk factor at the district hospital (OR = 18.62, p = 0.002). Alcohol use markedly elevated birth asphyxia risk; conversely, abstinence was protective (referral centre OR = 0.03, p = 0.028; district hospital OR = 0.01, p = 0.013). Dietary pattern was a significant factor only at the district hospital, with pure vegetarian mothers showing higher risk (OR = 15.89, p = 0.025). Maternal age, residence, antenatal visits, and smoking showed no significant associations. Conclusion : Maternal anemia, alcohol consumption, primiparity, low socioeconomic status, and specific dietary patterns are key determinants of birth asphyxia. Targeted interventions to improve maternal nutrition and reduce substance use are essential to lowering birth asphyxia incidence and improving neonatal outcomes.
A Comparative Efficacy and Adverse Clinical Events of Methotrexate versus Azathioprine with Steroid Mini Pulse Therapy in the Management of Moderate to Severe Alopecia Areata: A Tertiary Centre Based Interventional Study
(Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON), 2022) Mishra, Aditi; KC, Shekhar; Shrestha, Elisha; Pandey, Chandranshu; Karn, Dharmendra
Abstract: Introduction: Alopecia areata is a T cell-mediated autoimmune disorder of hair follicles resulting in partial or total hair loss. Treatment of alopecia areata is difficult, and it has variable severity. Objectives: To compare the clinical efficacy and adverse clinical events of azathioprine versus methotrexate with steroid minipulse therapy in managing moderate to severe alopecia areata. Materials and Methods: Prospective non-blinded clinical trial conducted for 6 months in Department of Dermatology at Dhulikhel Hospital. Dermoscopic evidence of alopecia areata patients treated according to group assigned and effects and adverse event were noted. Results: There was a total of 36 patients enrolled. Twenty patients were in Group A (AZT+MPT) and 16 in group B (MTX+MPT). There was a significant improvement in SALT score at 6 months (Group A p-value: 0.03; group B p-value: 0.001). Treatment efficacy (percent scalp hair regrowth) in group A was 79.2%, and in group B was 89.01%. Conclusion: Both treatment regimens showed marked improvement with SALT score reduction; however, methotrexate with steroid minipulse therapy showed slightly higher treatment efficacy than azathioprine with steroid minipulse therapy.