PSYCHOSOCIAL ILLNESS IN CHILDREN WITH THALASSEMIA: A CASE-CONTROL STUDY

INTRODUCTION: Thalassemia is the most common hemolytic autosomal recessive disorder. Pakistan has significant number of thalassemic children .The children with chronic disorders like thalassemia are prone to develop psychosocial illness including depression, anxiety, intellectual and behavioral issues.  OBJECTIVE: To assess the psychosocial illness in children with thalassemia and to compare these problems in children with and without Thalassemia   PLACE & DURATION: The Children’s Hospital and the institute of child health, Multan. From January to September 2021.  STUDY DESIGN: Case-control  MATERIAL AND METHOD:   In this study 50 children with Thalassemia and 50 normal children were enrolled as case & control according to inclusion and exclusion criteria. After approval from institutional ethical committee, detailed history ,Socioeconomic status, educational status of parent and child, age of diagnosis of disease, and whether thalassemia is well controlled or not and complications were noted. A Pediatric Symptom Checklist was used for psychosocial problems in all children. Data was analyzed by using SPSS version 22. Mean and standard deviation for quantitative data, while frequencies and percent for qualitative data was calculated. P-value was calculated by Chi square test. Prevalence ratio (ODDS ratio) with 95%confidence interval of all variables were calculated.  RESULTS: Out of 100 patients 50 were in case group (Thalassemia) and 50 control (non-thalassemic.Male female ratio was 1.2:1. 60 %( n=30) cases, 78 %( n=39) control patients were age ranges between 5 to 10 years. Educational level of parents of 40%(n=20),and 56%(n=28) was below matric,42%(n=21) and 90%(n=45) patients were going to school in case and control group respectively.82%(n=41) patients belonged to low socioeconomical status in each group. Regarding characteristics of thalassemia 74 %( n=37) patients were diagnosed within 1st year of life, while 26 %( n=13) after 1st year.64 %( n=32) had well controlled and 36 %( n=18) poor controlled disease. 20%(n=10) had developed Diabetes mellitus,2%(n=1) heart failure,74%(37) growth failure,76%(n=38) hemolytic facial features and 72%(n=36)skin discoloration. Psychosocial problems were statistically significant in children with Thalassemia as compared to healthy ones (p-value<0.001).Poorly controlled thalassemia and complications of heart and growth failure were found statistically significant risk factors.  CONCLUSION: Psychosocial problems are common in children with thalassemia as compared to healthy ones. So these patients must be referred for detailed psychological evaluation and management along with medical treatment.

OUTCOME OF DEVELOPMENTAL THERAPY IN CHILDREN WITH CEREBRAL PALSY CHILDREN: A PROSPECTIVE COHORT

Introduction: Cerebral palsy (CP) is the non-progressive disorder of motor and posture with associated delayed development in areas of cognition, perception, behavior and sensation, due to insult to immature brain. Improvement in all developmental domains of CP patients depends upon early institution of rehabilitation programs involving all multidisciplinary approach. The portage early education program (PEEP) is a worldwide, effective and early interventional method, for developmentally delayed children.   Objective: To determine the outcome of developmental therapy in children with CP by using PEEP.  Study Design: Experimental research design (within group)  Settings: The children hospital and the institute of child health Multan.  Methodology: 156 patients of 2 to 10 years of age, both gender from January 2020 to December 2020, diagnosed as CP were enrolled for this study. All children were assessed by using PEEP and GMFM (Gross Motor Function Measure) twice 6 months apart. A trained clinical psychologist administered PEEP to all the children. All the Patients were advised regular weekly sessions at hospital by multidisciplinary team and at least 2 hours per day for continuation of these therapies at home. At the end of 6 months we found that all families had not followed this. The patient who visited >2times/month were considered compliant and those visited <2times/month were considered non-compliant. Data was analyzed by using SSPS version 16. Paired t test was used to compare the developmental outcome of compliant and non-compliant groups.  Results: Out of 156 participants, 58(37%) were in compliant and 98(63%) non-compliant. Male subjects were prominent 42(72.41%) and 67(68.37%) respectively. Most of the participants belonged to 3-6 years of age in both groups28(48.29%) and 51(52.04%) respectively. Spastic quadriplegia (26(44.83%), 57 (58.16%)), and level 5 on GMFM  24(42.86) and 52(53.06%) respectively was commonly presents in both patient groups. The mean comparison of DQ of Compliant CP Children at initial stage and after six months in areas of GM, C, SH, S, L and GMFM was found statistically significant.   Conclusion: CP children should be on regular follow up for developmental therapy for long time for better outcome. PEEP is an excellent system for the assessment, training and rehabilitation of children with delayed development. 

Sturge Weber Syndrome (SWS): A case report in an infant

Introduction: Sturge Weber Syndrome (SWS), known as encephalotrigeminal angiomatosis, is a rare neurocutaneous disorder and is having a prevalence of 1/20-50,000, live births. The syndrome consists of leptomeningeal angiomas and the angiomas of the face, characteristically in the ophthalmic and maxillary divisions of the trigeminal nerve. The neurological presentations include fits, deficits in cognition, glaucoma, and visual field abnormalities. The overgrowth of the soft tissues and extracranial angiomas can also occur in SWS. Case presentation: We are presenting a rare case of Sturge Weber Syndrome in an infant who presented at an early stage of this disorder. The index case presented to us with a large port-wine stain and right-sided focal fits. The CT scan brain showed subtle gyriform tram-track calcification of the left cerebral cortex and the left-sided cerebral atrophy. Ophthalmological examination showed glaucoma of the left eye. The clinical and radiological criteria were used to make the final diagnosis of SWS. Conclusion: The case is being reported in order to increase awareness among medical professionals

MICROBIAL OXIDATION OF FINASTERIDE WITH MACROPHOMINA PHASEOLINA(KUCC 730)

Objectives: New  microbial oxidative derivatives of Finasteride [17β-(N-tert-butylcarbamoyl)-4-aza-5α-androst-1-en-3-one] (1) has been investigated with Macrophomina phaseolina (ATCC730).Methods: Fermented media of  Macrophomina phaseolina (ATCC730) was prepared to cultivate the fungal cultures . Substrate 1 was incubated in liquid media for 16 days. After sixteen days, filtration and extraction of the fermented media was carried out with 9 L DCM in three portions. Resulting organic extract was dried using anhydrous (Na2SO4), and evaporated to afford a brown gum (950 mg). This on chromatographic purification with MeOH in CH2Cl2 afforded the metabolites 2-4 . Results: Three oxidised metabolites of finasteride (1) which were identified as 15-oxo-finasteride (2), 11a-hydroxyfinasteride (3), and 15β-hydroxyfinasteride (4). Metabolite 2 was found to be new. The structure of the oxidised metabolites were elucidated by 1-D (1H, 13C) and 2-D NMR (COSY, HMBC, HMQC, NOESY) techniques and MS analyses.Conclusion: As a result of these study, oxidation at C-7, C-11 and C-15 positions were found. Metabolite 2 was identified as a new metabolite

Role of Hypogonadotropic Hypogonadism in Psychosocial Deprivation among Females Patients

Background: Patients with rare diseases such as congenital hypogonadotropic hypogonadism (CHH) are often challenged to be isolated, lack proper medical care and face negative social consequences. Furthermore, pubertal development is the period of rapid and nearly simultaneous transformation of biological, physical, social, and psychological domains of an individual. Hence, the process of personal transformation is also affected in children with pubertal delay. Due to delay in the growth process, the individual looks different from her or his peers and may have negative consequences on the psychological and social interactions. Objective: The disparities in the growth and development may cause an increase in psychosocial problems and negative peer relationship. Hence, this study was designed to observe psychosocial consequences of delayed puberty in female with CHH. Design: Cross sectional study. Place & duration of study: The data were collected from CHH patients visiting public sector hospitals over a period of 18 months. Patients & Methods: The demographic information, complete medical history, psychological and psychosocial symptoms of the 52 female CHH patients were recorded on the questionnaire. Results: The present study demonstrated that most of the patients were frustrated due to poor body image, low self-esteem, feeling themselves behind the peers, and were with complaints of depression and anxiety. The other psychological symptoms include anger, irritability, loneliness, eating and sleeping disturbances. Conclusion: It was concluded that the delayed sexual maturation has resulted in frustration, low self-esteem and increased anxiety and depression in cohort of local females with CHH

Rhinocerebral zygomycosis in Pakistan: clinical spectrum, management, and outcome

OBJECTIVE: To study the disease spectrum and salient management features of 36 patients with histopathologically-confirmed rhinocerebral zygomycosis seen at our academic center over a 16-year period. METHODS: Retrospective review of patients admitted to the Aga Khan University Hospital in Karachi, Pakistan from January 1991 to December 2006 with histopathologically-confirmed zygomycosis of the head and neck. RESULTS: Mean patient age was 40 +/- 5.0 years (range, 34-63 years), and 23 (64%) patients were male. Thirty-two (89%) patients were referred from clinical services other than otolaryngology. Underlying predisposing conditions included diabetes mellitus (21 patients), haematologic diseases (9), and renal failure (6). Twenty (55%) patients had limited sinonasal disease, ten (28%) had orbital involvement, and six (17%) had intracranial extension. All patients underwent rigid nasal endoscopy and biopsy, and black necrotic tissue was seen in 22 (61%) instances warranting endoscopic or open surgical debridement. Four of 6 patients undergoing open surgery required orbital exenteration. Overall patient survival was 56% (20/36 patients). Diabetic patients had improved survival (17/21, or 81%) compared to patients with haematologic disorders (3/9, or 33%) (p = 0.001). All six patients with intracerebral disease died. Eighteen of the 22 (82%) patients treated with surgery plus amphotericin B survived vs. two of 14 (14%) receiving amphotericin B alone (p \u3c 0.001). CONCLUSIONS: In rhinocerebral zygomycosis, an aggressive, multidisciplinary, diagnostic and therapeutic approach that utilizes CT or MRI staging, and combines endoscopic or open surgical debridement with amphotericin B-based antifungal therapy offers the best chance of recovery

MICROBIAL METABOLISM OF AN ANTI-HIV AND ANTI-MALARIAL NATURAL PRODUCT ANDROGRAPHOLIDE

Objective: Andrographolide (1), the main crystalline bitter principle of Andrographis paniculata nees. (also known as rice bitter in the West Indies) was first isolated by Gorter, and characterized as trihydroxy lactone. It was also isolated from Holmskilodia sanguinea in very good yield. It possesses a wide range of biological activities, which is also important in the therapeutic fields including anti-inflammatory, anti-malarial, anti-viral, immuno-stimulant, anti-HIV, and cardiovascular properties. In the present study, we first time studied the microbial metabolism of andrographolide (1) with Cunninghamella elegans (TSY 0865) and Cephalosporium aphidicola (IMI-68689). Methods: Microbial cultures of the C. elegans and C. aphidicola were grown on Potato dextrose agar (PDA) at 25°C and stored at 4°C. Medium for C. aphidicola was prepared by mixing Glucose (50.0 g), KH2PO4 (1.0 g), MgSO4.7H2O (2.0 g), Glycin (2.0 g), KCl (1.0 g) and Gibberella trace element solution (2.0 mL) into distilled water (1 L) and maintained pH at 5.6. While C. elegans medium was prepared by adding Glucose (10.0 g), peptone (5.0 g), KH2PO4 (5.0 g), yeast extract (5.0 g), NaCl (5.0 g) and glycerol (10 mL) into distilled water (1 L) and maintained pH at 5.6. Results: Two compounds were obtained as transformed products. Based on physical and spectroscopic data, these have been identified as andropanolide (2) and 14-deoxy-11,12-didehydro andrographolide (3). Both compounds were previously obtained by the phytochemical investigation of A. paniculata and biotransformed product as well. Conclusion: It could be concluded that C. elegans and C. aphidicola were able to produce oxidative derivatives of 1 in a regio- and stereoselective manner. Present investigation has been conducted for the first time with C. elegans and C. aphidicola. Incubation of 1 for 9 days with fungal strains yielded isomerized and oxidative products 2 and 3. Structures of all metabolites were elucidated by using spectroscopic techniques

The Apolipoprotein E Polymorphism And Dyslipidemia In Elderly Patients Of Calcific Aortic Stenosis: A Case Control study

Objective: This study aimed to investigate the impact of the Apo E polymorphisms on plasma lipid profile and to identify the polymorphism of the apo-E gene as genetic predictor of calcific AS in Pakistani population.   Methodology: This was a case control study conducted in Dow University of Health Sciences and National Institute of Cardiovascular Disease, Karachi. It included total of 100 individuals, 50 echocardiographically identified calcific AS cases and 50 age and gender matched controls. Apo E allele frequencies were computed, lipid profiles were estimated and Apo E gene polymorphism was identified by the techniques of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).   Result: Apo E 2, 3, and 4 allele frequencies were 16%, 52%, and 32% in calcific AS cases, and 10%, 52%, 28% in controls respectively (p=0.622). Out of 50 cases, 18% presented with mild AS, 22% moderate AS and 60% lied in severe calcific AS. It was observed that levels of total cholesterol (TC), triglyceride (TG) and low-density lipoprotein (LDL) were higher in Apo E4 allele as compared to other genes in both cases and control.   Conclusion: The findings of this study suggested that Apo E4 allele of Apo E gene is an impotent risk factors for dyslipidemia while Apo E4 allele is not associated with calcific AS contemplates distinctive genetic backgrounds of CAD and AS

BIOTRANSFORMATION OF DEHYDROABIETIC ACID WITH MICROBIAL CELL CULTURES AND α-GLUCOSIDASE INHIBITORY ACTIVITY OF RESULTING METABOLITES

Dehydroabietic acid (DHA, 1), a natural occurring diterpene resin acid, is an abundant resin acid in conifers, representing a natural wood protectant. The aim of this study was to use microbial cell cultures as tools for modification of 1 in order to obtain value-added functional derivatives. A scaled-up biotransformation of 1 by filamentous fungus Cunninghamella elegans, Rhizopus stolonifer, Gibberella fujikuroi, and Cephalosporium aphidicola were conducted for the first time. Three hydroxylated metabolites; 1b-hydroxydehydroabietic acid (2); 15-hydroxy dehydroabietic acid (3); and 16-hydroxy dehydroabietic acid (4). The structure of the hydroxylated metabolites were elucidated by 1-D (1H, 13C) and 2-D NMR (COSY, HMBC, HMQC, NOESY) techniques and MS analyses. Dehydroabietic acid (1) and their transformed products 2-4 exhibited a promising α-Glucosidase inhibitory activity. Compound 1 showed 38 times more active than the standard α-Glucosidase inhibitor, deoxynojirimycin. Compound 1 and its transformed metabolites 2-4 also showed significant antibacterial activities