Impact of Dietary Counselling to Improve Nutritional Status of Hemodialysis Patients

Proper nutrition may reverse the malnutrition and can modulate renal function in hemodialysis patients. In majority of the dialysis units in Pakistan, nutritional advice is given by health professionals working in dialysis. We compared the impact of dietary counseling by a renal dietitian, on nutritional status with that by health professionals working in dialysis units in patients undergoing maintenance hemodialysis. Nutritional assessments were made using subjective global assessment (SGA) scale, which combines assessment of intake, physical findings, and functional status. Two hundred and seventy‑seven patients undergoing hemodialysis from two renal care units in Hayatabad Medical Complex Peshawar and Lahore Gernal Hospital Lahore Pakistan, were enrolled (138 patients in control group, 139 in experimental group). In the experimental group, patients were given repeated dietary counseling by a renal dietician, whereas control group patients were provided with the necessary nutritional information by another health professional. Detailed nutritional, biochemical, and SGA assessment were done on all of them at the beginning and completion of study after 6 months. Patients were categorized as well‑nourished (WN) (SGA = 1–14), mild to moderate malnourishment (MMM) (SGA = 15–35), and severe malnutrition (SM) (SGA = 36–49). In the present study, the overall malnutrition rate at baseline was 95.3%, and it dropped down to 91.7% after 6 months after nutritional counseling. In the experimental group, malnutrition status decreased from 97.2% to 89.8%, whereas in the control group, malnutrition situation remained same. Compared to baseline, in the control group, there was no improvement in the WN group. However, a shift has been observed from MMM group to SM group suggesting more number of patients are becoming malnourished. Contrarily, in the experimental group, an improvement of +7.2% in WN group and +14.3% in MMM group and a drop of −21.6% in severe malnourished group suggesting more number of patients gaining nutrition. The present study observed a significant improvement in nutritional status of patients who received counseling by the renal dietician. The reduction in SGA score was independent of reductions in serum creatinine and blood urea levels Keywords: Dietary Counselling, Nutritional Status, Hemodialysis Patients DOI: 10.7176/JMPB/55-16 Publication date:May 31st 201

COMPARISON OF PERCEPTIONS IN TERMS OF FUNCTIONS AND FAMILY SUPPORT AMONG NORMAL INDIVIDUALS AND PATIENTS OF SCHIZOPHRENIA

Objective: To investigate the differences in perception between schizophrenic patients and their normal siblings in terms of functionality and family support. Design: A cross-sectional study. Place and duration of the study: In the Psychiatry Department, Mayo hospital Lahore for one year duration from July 2016 to July 2017. Subjects and methods: 300 normal siblings and 300 patients were included in the study. A semi-structured interview and multidimensional, Family Support Scale and Family Functioning Scale were used to check the variations. The data was analyzed statistically. Findings: Expression, organization, family sociability, conflicts, idealization and democracy were the most important factors for family functioning (p <0.0004). Major variations were observed in the general family function perception and family support (p = 0.0002). Conclusions: We believe if family and family functions of family members are taken differently by patients than family dynamics should be deepened in the treatment of schizophrenia. Key words: Schizophrenia, Expression

Tuberculoma Brain and its Early Radiological Presentation; Descriptive Analytical Study

OBJECTIVE: To highlight the radiological presentation of tuberculoma brain in association with clinical features of the disease METHODOLOGY: As Descriptive analytical nature of study, it was held in Radiology Department of liaquat University Hospital Hyderabad from June 2018 to December 2018. The cases were referred from medicine and neurosurgery ward to the radiology department for MRI and CT scans. The fillings of questionnaire and co relation of its radiological findings with clinical aspect were examined by evaluating patients file and diagnosed on clinical suspicion, CSF findings, improvement on empirical treatment, diagnosis of exclusion and multi discipline discussion. RESULTS: Total numbers of 20 patients were included, mostly younger age were affected with male preponderance. Mostly cases were presented with meningitis (80%), seizures (60%) and history of tuberculosis (60%). On CT and MRI brain scan, the most common findings were multiple lesions (95%) showed central hyper-intensity on T2 (55%) with meningeal enhancement (80%), fluid- attenuate inversion recovery (FLAIR) signals (35%) and hypo-intense core with hyper-intense rim (30%) reflecting the most of cases with early non caseating nature of tuberculoma. Ring like lesions (80%) and irregular shape (45%) with (25%) target like lesions were found and associated with edema (55%) and calcifications (10%). CONCLUSION: The presentation of tuberculoma is no more a rare manifestation of infective CNS disease. Early identification on scans with characteristics of early non caseating granuloma can help in prompt diagnosis and treatment which in turn decreased the disabling nature of disease and its progression

Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene

Background: Glycosylphosphatidylinositol (GPI) is a glycolipid containing phosphatidylinositol related to the protein surfaces by covalent attachment. Inherited GPI deficiencies have various phenotypic chrematistics, which range from intellectual disability to dysmorphic features, epilepsy, and other severe anomalies. Methods: Molecular diagnosis was performed using whole exome sequencing (WES) followed by Sanger sequencing. Results: WES revealed a novel homozygous nonsense variant (c.250C&gt;T; p.Gln84Ter) in the exon 2 of the phosphatidylinositol glycan anchor biosynthesis class Ogene that might explain the disease phenotype in the patient. Conclusion: This study will help in proper genetic counselling of the family and help in genotype-phenotype correlation in the future. [JBCGenetics 2023; 6(1.000): 22-28

Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability

Intellectual disability (ID) has become very common and is an extremely heterogeneous disorder, where the patients face many challenges with deficits in intellectual functioning and adaptive behaviors. A single affected family revealed severe disease phenotypes such as ID, developmental delay, dysmorphic facial features, postaxial polydactyly type B, and speech impairment. DNA of a single affected individual was directly subjected to whole exome sequencing (WES), followed by Sanger sequencing. Data analysis revealed a novel biallelic missense variant (c.1511G>C; p.(Trp504Ser)) in the ALKBH8 gene, which plays a significant role in tRNA modifications. Our finding adds another variant to the growing list of ALKBH8-associated tRNA modifications causing ID and additional phenotypic manifestations. The present study depicts the key role of the genes associated with tRNA modifications, such as ALKBH8, in the development and pathophysiology of the human brain