A rare case of abetalipoproteinemia

The disease studiedhere abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder which is caused by microsomal triglyceride alteration in protein gene mutation. ABL is defined by a lack of lipids and apolipoprotein B in the plasma, as well as fat malabsorption and a variety of clinical symptoms. We report a 21-year-old male with a history of persistent diarrhea, steatorrhea, and growth retardation who was born to consanguineous parents. The patient was diagnosed with ABL and was treated with dietary changes and fat-soluble vitamin replacement, as well as being monitored on an outpatient basis.

Clinical profile and outcome of Pelviureteric junction obstruction (PUJO) in children less than 12 years.

Background: Pelvi-ureteric junction obstruction (PUJO) is defined as anatomical or functional obstruction to the flow of urine from the pelvis to the upper ureter. This may be unilateral or bilateral. Most of the hydronephrosis cases are due to Pyelo-ureteral junction obstruction (PUJO) which can be diagnosed antenatally. The treatment protocol for antenatal diagnosed PUJO is standardized. Few children present later in life. Present study was done to evaluate clinical profile and outcome of infants and children (<12years) presenting with PUJO. Methods: A retrospective observational study conducted by the department of Paediatric Surgery, SDM hospital Dharwad. All children with age less than 12 years with PUJO from March 2017 to March 2020 were included in the study (n=51). Initial evaluation was done with Ultrasound KUB (Kidney, Ureter, Bladder). A diuretic renogram/ EC (Ethylene cysteine) was done to confirm the diagnosis. The children were managed both conservatively and surgically (Pyeloplasty), depending on the presentation. The children were followed up post-surgery. Results: Fifty one patients were included in the study. Mean age of presentation was 31±30 months. Most common presentation was pain abdomen which was seen in 9 patients (17.6%). 6 patients (11.7%) presented with Lump and 2(4%) presented with fever. Left kidney was commonly involved (66%). Males predominate (80%). The mean antero-posterior pelvic dimension (APPD) of involved kidney was 30mm with range from 12.5mm to 68mm. 4 (7.8%) children presented with poorly functioning kidney with split renal function less than 10%. PUJO was associated with Pelvic calculi, VUR, Horseshoe kidney, Mal-rotated kidney. Out of the 51 patients, 9 (17.6%) were kept in conservative management 42 (82.3%) underwent Pyeloplasty. Among 42, 1 underwent redopyeloplasty and 1 underwent nephrectomy. In rest of the operated patients (Post-pyeloplasty) diuretic renogram showed improved drainage with improved function. Conclusions: PUJO is common cause of urinary obstruction in children. Earlier the diagnosis, better the outcome. Delay in diagnosis or presentation leads to increased chances of renal damage and loss. Hence it is important to diagnose PUJ obstruction at the earliest and receive prompt treatment.

Resurgence of diphtheria: clinical profile and outcome in a tertiary care hospital of South India

Background: Diphtheria is a potentially fatal acute disease caused by Corynebacterium diphtheria. It was one of the leading causes of mortality in the pre vaccination era. This study is an attempt to highlight the clinical profile, outcome and demographic characteristics, immunization status of pediatric diphtheria cases in South India. Objective of the study was to analyze the clinical profile, immunization status and outcome in children with diphtheria admitted to the PICU in a tertiary care hospital.Methods: This retrospective study was conducted in a tertiary care hospital in South India. The case records of all children admitted to the hospital between January 1st, 2014 to December 31st, 2018 with clinically suspected diphtheria were analyzed. The data was analyzed with respect to clinical features, demographic characteristics, immunization status, complications and outcome using appropriate statistical methods.Results: 18 cases were clinically suspected to have diphtheria. The average age of children presenting with diphtheria was 9 years. Out of the 18 cases, 11 were male, 7 were female. 16 out of 18 cases were from rural areas, whereas only 2 cases were from urban areas. Fever, sore throat and dysphagia were the presenting complaints in all cases. Neck swelling, white patch over tonsil and tender cervical lymphadenopathy were the other findings noted. Out of 18 cases, 7 were completely immunized, 8 were incompletely immunized and 3 were not immunized. Antidiphtheritic serum was given in 14 cases. Myocarditis, airway compromise and neurological deficits were the complications noted. Case fatality rate was 50%.Conclusions: Diphtheria still remains a major public health problem in developing countries like India. Mortality and morbidity due to diphtheria continues to be high despite ready availability of vaccines and antitoxin. Childhood immunization program, especially follow up and administration of booster doses must be prioritized.

Factors affecting compliance of drug therapy in outpatient children

Background: Adherence to a medical treatment regimen is an essential determinant of clinical success and professional success of doctor as well. Compared with the thousands of trials for individual drugs and treatments, there are few relatively rigorous trials of adherence interventions. Our study is a small effort towards understanding reasons for poor compliance among paediatric patients.Methods: The 256 cases that were selected for study had various clinical conditions. Compliance definition was applied only for those who received antibiotics. For other cases who received drugs other than antibiotics, we asked number of skipped doses. Data collected by paediatrician during follow-up or next visit because of some other illness and by telephone call to parents by assistant. Parents and kids were asked about the reasons for skipping the doses and also about their personal preferences towards medicines.Results: Out of 256 children 93 were prescribed antibiotics, 37.63% had good compliance and 62.36% had poor compliance.7% never skipped any medicine, 62% skipped less often (?5 times) and 31% skipped. Very often (?6 times), taste (67%), quantity (52%), apparent recovery (62%), school (65%), sleeping (56%), timing with food (47%) and bottle getting finished (49%) were the most common reasons for missing the dose of any medicine. Adherence was better when less number of doses were given less often. Chocolate flavor was liked by most kids.Conclusions: Prescribing medications should involve parents, children and practitioners in an open discussion around the most suitable, palatable formulations for successful treatment outcomes.

A Clinical Study and Surgical Management Of Foot Lesions In Diabetic Patients.

Abstracts: Background & Objectives: The surgical complication of diabetes mellitus has been a common clinical problem. The present study was undertaken to evaluate patients clinicaly with respect to age, sex, presentation and to do other specific investigations. The patients were treated by surgical methods, and the outcome was monitored. The ulcer is most common presentation of diabetic foot. Majority of patient comes under Wagner’s grade 3.Only 26 patients came for follow up out of 50 patients. Objective is to study various presentations of foot ulcers in case of diabetic foot, to study the grades of lesions in diabetic foot, to evaluate methods of surgical management in diabetic foot ulcers.