Sociodemographic and Clinical Characteristics of Child Sexual Abuse Reported to an Urban Public Hospital in Southern India, 2019-22

Objective: To describe the profile of child sexual abuse (CSA) reported to a tertiary care hospital. Methods: A retrospective analysis of CSA reported in children aged below 18 years from January, 2019 to June, 2022. Results: Out of the 231 cases of sexual abuse reported, 115 (49.8%) were children below 18 years. Most of the victims were children from 10 to 15 years (37.4%), and there were only two male victims. In 89.6%, the perpetrator was known to the victim. Revictimization was seen in 31%. The reported perpetrators were friends (27%), neighbors (34.8%), strangers (10.4%), or fathers (7.8%). Penetrative abuse was seen in 58.3% of reports. External injuries were seen in 6.96%. Eight victims were pregnant and HIV screening was positive in one victim. Conclusion: Early identification of CSA is important to prevent revictimization. Children from all age groups can be victims of CSA. Perpetrators can hail from all walks of life of the children.

Premature Atherosclerosis in Children With Transfusion-Dependent Thalassemia: A Twin-Center Cross-Sectional Study

Objective To analyze the risk of premature atherosclerosis in children with transfusiondependent thalassemia (TDT) compared to controls by measuring carotid intima-media thickness (CIMT) and correlating it with clinical and biochemical parameters. Methods: Case-control study among children aged 2 to 15 years. Results: Significantly higher CIMT values were observed across all age groups. Mean (SD) CIMT in controls were 0.27(0.07) mm, 0.39 (0.03) mm, and 0.46 (0.05) mm in 2 to 5 years, 6 to 10 years, and 11 to 15 years age groups respectively, as against 0.43 (0.08) mm, 0.55 (0.07) mm and 0.63 (0.08) mm in cases in similar age groups (P<0.001). Mean triglycerides and liver enzymes were significantly elevated in cases. Logistic regression analysis demonstrated that older age group and higher serum ferritin levels, but not dyslipidemia, were significantly associated with high CIMT. Conclusion: Children with TDT are at increased risk for premature atherosclerosis.

Pediatric Inflammatory Multisystem Syndrome Temporally Associated with SARS-CoV-2

Objectives To know the clinical presentation and outcome of children with pediatric infammatory multisystem syndrome temporally associated with SARS-CoV- 2 (PIMS-TS) at a pediatric tertiary care center in Chennai. Methods Clinical and biochemical parameters of 65 children with PIMS-TS treated between July and October 2020 were studied. All children had their COVID RT-PCR and IgG COVID antibodies tests done. Results Mean age of the study group was 5.65±3.68 y. Fever with red eyes, rash, vomiting, abdominal pain, and shock were common presenting features. Sixty percent of the study group had Kawasaki/incomplete Kawasaki features. Sixty-seven percent of the study group had coronary dilatation, 41% presented with shock, and 25% had left ventricular dysfunction. Coronary aneurysms were documented in 58% of the study group (z score more than 2.5). Respiratory presentation with pneumonia was seen in 10%. Four children presented with acute abdomen. Acute kidney injury, acute liver failure, hemolysis, pancytopenia, macrophage activation syndrome, encephalopathy, and multiorgan dysfunction syndrome (MODS) were other features. Forty-three percent required noninvasive oxygen support and 15.4% required mechanical ventilation. Intravenous immunoglobulin (73.8%) and methylprednisolone (49.8%) were used for therapy. Mortality in the study was 6%, which was due to MODS. Conclusions Acute febrile illness with mucocutaneous and gastrointestinal manifestations should have PIMS-TS as a possible diferential diagnosis and needs evaluation with infammatory markers and SARS-CoV-2 antibodies.

Pediatric Adrenocortical Oncocytoma presenting as Cushing’s Syndrome and Peripheral Precocious Puberty:A case report and review of literature / Journal of the ASEAN Federation of Endocrine Societies

@#Oncocytic adrenocortical tumours (OATs) or oncocytomas are extremely rare and are usually benign and nonfunctional. We report the case of a 4-year-old male with a right-sided, functional oncocytic adrenocortical adenoma, who presented with precocious puberty and Cushing’s syndrome. After work-up, the patient underwent laparoscopic adrenalectomy. The excised adrenal mass weighed 21 g and measured 3.5 cm in maximum dimension. Histological examination demonstrated no features suggestive of aggressive biological behaviour. The patient had no features of recurrent or metastatic disease and had prepubertal testosterone levels with suppressed hypothalamic-pituitary-adrenal axis twelve months after the surgery. A discussion of this case and a review of the literature on functional OATs in the pediatric population are presented.

Study of the Various Factors which Influence the Outcome of Patients with Blunt Injury Chest

Introduction: Injury is the most common cause of death among people aged 1–34 years. The most common cause of injury is a road traffic accident and the majority is confined to the thoracic cage. These consist of rib fractures with underlying pulmonary contusion. When ignored, underestimated or inadequately treated chest injuries may cause the death of a patient during surgical intervention for seemingly more pressing intracranial or abdominal hemorrhage. Aim: This study aims to study the outcome of blunt injury chest patients in emergency and various modalities of treatment to identify possible risk factors for mortality. Materials and Methods: A prospective review of all cases of trauma with blunt chest injuries evaluated with X-ray or computed tomography scan. The cases were examined for age, type of injuries, presence or absence of rib fractures, hemothorax, or pneumothorax. Results: There were 50 patients included in this study. All had rib fractures and hemo/pneumothorax, 3 had lung contusion, 19 patients had associated injuries, 1 patient underwent emergency thoracotomy, 3 patients were kept on ventilator support, and 3 expired. Conclusion: Close attention to improving gas exchange and early management of hemo/pneumothorax might improve outcomes in blunt injury chest.

Prevalence of possible depression and associated biosocial risk factors among adolescents in a private school in Chennai, South India

Background: Depression among adolescents is often undetected because of lack of awareness in mental health. Schools are the best place to study, analyze and report adolescent depression. The objective of this survey is to find out the prevalence of possible depression and associated bio-social risk factors among high school going adolescents aged 15 and 16 years. This can help reform school curriculum based on the prevalence of depression.Methods: A school based cross-sectional study done by randomly selecting 10 classrooms from the 11th standard high school compartment in a private school. Data was collected using a pre-designed and structured questionnaire based on Kutcher's Adolescent Depression Scale. The results were analyzed using R Studio software with Pearson Chi-square test and a p-value of <0.05 was considered statistically significant.Results: Out of 486 students included in the study, 164(33.7%) have 'possible depression' and adolescents aged 16 years(39.5%) has higher proportion of possible depression than adolescents aged 15 years(29.2%), which is statistically significant(p=0.016). About 46.2% of adolescents having illiterate mothers had a possibility of depression. With regards to physical activity 28.1% who played for 3 hours and more had depressive signs and adolescents who played less had 37.2%. This difference is statistically significant (p=0.039).Conclusions: Being a dormant and hidden disease, depression is one such disease that must be probed by regular health screening. Mother's literacy status and a modifiable factor 'physical activity' have shown promising statistical significance. Adequate physical activity must be included in school curriculum to reduce the risk of depression.

Incidence and association of TCF7, TCF7L2 single nucleotide polymorphisms in type 1 diabetes mellitus patients of South Tamil Nadu, India

Background: The TCF family genes TCF7 (T cell specific transcription factor-7) and TCF7L2 (transcription factor 7 like 2) are increasingly recognized to play a pivotal role in the incidence, pathophysiology of type 1 diabetes mellitus (T1DM). However, the prevalence and the influence of these allelic variants in the Indian/south Indian T1DM population is completely obscure.Methods: Genomic DNA was isolated from the peripheral blood samples of healthy controls, T1DM patients, and PCR (polymerase chain reaction), restriction fragment length polymorphism (RFLP), allele specific PCR (ASP), PCR product sequencing strategies were utilized to determine the prevalence of the TCF7 (exon 3, flanking intron 2, 3 regions) and TCF7L2 (intron 4) polymorphisms. Clinical investigations included assessment of the blood glucose/ estimated average glucose levels (EAG) and C-peptide levels.Results: The results indicate that 34.9% and 3.17% of the T1DM patients harbored the TCF7L2 rs7903146 and the TCF7 rs386692598 polymorphisms, respectively. Assessment of biochemical parameters indicated that the rs7903146 positive T1DM patients exhibited significantly lower EAG levels (p<0.05), suggesting that these patients may exhibit phenotypic heterogeneity, a milder disease course. The study further demonstrates that PCR based strategies enable reliable molecular diagnosis of T1DM in small scale diagnostic units.Conclusions: T1DM patients from south Tamil Nadu present TCF7, TCF7L2 genetic variations and screening for these polymorphisms will empower physicians to provide appropriate therapy and genetic counselling.

A cross-sectional study of behavioural disorders in children with human immunodeficiency virus / acquired immuno deficiency syndrome attending an anti-retroviral therapy centre

Background: HIV is a chronic disease which also significantly affects the behavior. This study aims at evaluating behavioral disorders in children with HIV/AIDS.Methods: This Cross-sectional study utilized the Child Behaviour Check List.Results: The overall prevalence of borderline and clinically significant behavioral problems were 69.3% (n=104). The prevalence of behavioral disorders were observed in the eight categories - anxious/depressed (borderline-7.7%, clinically significant-18.3%), withdrawn/depressed (6.7%, 18.3%), somatic problems (7.7%, 6.7%), rule-breaking behavior (7.7%, 18.3%), aggressive behavior (10.6%, 21.1%), attention problems (15.4%, 2.9%) and thought problems (9.6%, 2.9%). No social problems were observed. Internalizing problems were common in girls and externalizing problems were common in boys. As age advanced a simple linear progression in prevalence of Behavior Problems was found. There were 47.1% of Orphans in study and behavioral problems were more common in them.Conclusions: High prevalence of behavioural abnormalities warrants comprehensive management including Behavioural counselling and therapy and not just drugs for these children.

High grade renal trauma due to blunt injury in children: do all require intervention? / Trauma renal de alto grau devido a lesão contusa em crianças: será que todas necessitam intervenção?

ABSTRACT Introduction: The aim of this study was to analyze the presentation and management of major grade renal trauma in children. Method: A retrospective study was performed including data collected from the patients who were admitted in Pediatric surgery with major grade renal injury (grade 3 and more) from January 2015 to August 2018. Demography, clinical parameters, management, duration of hospital stay and final outcome were noted. Results: Out of 13 children (9 males and 4 females), with age range 2-12 years (mean of 8 years), reported self-fall was the commonest mode of injury followed by road traffic accident. The majority (10/13, 75%) had a right renal injury. Eight children had a grade IV injury, one had a grade V injury, and four children had grade III injury. Duration of hospital stay varied from 3 to 28 (mean of 11.7) days. Three children required blood transfusion. One child required image guided aspiration twice and two required pigtail insertion for perinephric collection. All the 13 children improved without readmission or need for any other surgical intervention. Conclusion: Children with major grade renal trauma due to blunt injury can be successfully managed without surgical intervention and minimal intervention may only be needed in select situations.

RESUMO Introdução: O objetivo deste estudo foi analisar a apresentação e tratamento de grande trauma renal em crianças. Método: Foi realizado um estudo retrospectivo incluindo dados coletados dos pacientes que foram internados na cirurgia pediátrica com lesão renal de grau importante (grau 3 ou mais) de janeiro de 2015 a agosto de 2018. Coletamos dados a respeito de demografia, parâmetros clínicos, manejo, tempo de internação e resultado final. Resultados: Das 13 crianças (9 homens e 4 mulheres) com faixa etária de 2-12 anos (média de 8 anos), a queda auto-relatada foi o modo de lesão mais comum seguido de acidente de trânsito. A maioria (10/13, 75%) apresentou lesão renal direita. Oito crianças tiveram uma lesão grau IV, uma apresentou uma lesão grau V e quatro crianças apresentaram lesão grau III. A duração da internação hospitalar variou de 3 a 28 (média de 11,7) dias. Três crianças necessitaram de transfusão de sangue. Uma criança necessitou de aspiração guiada por imagem duas vezes e duas inserções de dreno pigtail exigidas para coleções perinefréticas. Todas as 13 crianças melhoraram sem re-internação ou necessidade de qualquer outra intervenção cirúrgica. Conclusão: Crianças com trauma renal de alto grau devido a lesão contusa podem ser manejadas com sucesso sem intervenção cirúrgica, e intervenção mínima pode ser necessária apenas em situações selecionadas.

A study on the length of stay of neonates in neonatal intensive care unit in a referral hospital in India

Background: Estimate of length of stay is important while counseling the parents of preterm infants and also make them prepared psychologically.Methods: A retrospective study done in the Neonatal Intensive Care Unit (NICU) of Government Mohan Kumaramangalam medical college hospital, Salem, Tamil Nadu, India between December 2017 and November 2018. All the neonates admitted during the study period formed the study group.Results: There were 3902 neonates admitted in the NICU during the study period. The mean duration of stay of neonates in the NICU during the study period was 7 days. Out of 3902 neonates in the study group, 37 (0.94%) neonates stayed less than 24 hours, 2208 (56.58%) neonates stayed for 1 to 5 days, 929 (23.8%) neonates stayed for 6 to 10 days, 668 (17.11%) neonates stayed between 11 to 30 days, 41(1.05%) neonates stayed for 31 to 60 days and 7 (0.18%) neonates stayed for more than 61 days. About 45% of neonates in the birth weight category of 1001 to 1500g stayed for 11 to 30 days. A similar trend was also observed in the analysis of length of stay of 29 to 32 weeks preterm neonates.Conclusions: Every hospital should have their own data to predict the length of stay of neonates in NICU. Future directions should include strategies in reducing the length of stay in NICU thereby optimising resources for the parents and the country.

Pilot studies on the prevalence and association of TCF7L2 polymorphisms in non-diabetic participants and type 2 diabetic patients of South Tamil Nadu

Background: Genetic predisposition plays a critical role in the incidence of type 2 diabetes mellitus (T2DM). While a few reports strongly associate TCF7L2 gene polymorphisms in the T2DM incidence in India, data pertaining to the prevalence of these polymorphisms in the south Tamil Nadu population has been lacking. Hence, the present study aims to determine the prevalence and association of the TCF7L2 gene variants rs7903146, rs12255372 in the regional population of south Tamil Nadu.Methods: Peripheral blood samples from controls, T2DM patients were utilized to isolate genomic DNA and genotyping was carried out using PCR based strategies, direct sequencing. Socio-demographic details, anthropometric measurements, determination of postprandial, random blood glucose levels and oral glucose tolerance test (OGTT) were further carried out to evaluate the predisposition risk for T2DM.Results: 50% of the control group participants and 73.9% of the T2DM patients were positive (CT/TT) for the TCF7L2 polymorphism rs7903146. The rs12255372 SNP was less prevalent in the controls, patients and was dispersed in only 25% of the controls and 60.9% (GT/TT) of the patients. The 60 minutes plasma glucose levels for the oral glucose tolerance test (OGTT) was higher (143.3±19.8) in the rs7903146 and rs12255372 positive control participants.Conclusions: The study results reveal that TCF7L2 polymorphisms are dispersed in the regional population and further large scale, long term follow up studies will aid preventive and therapeutic measures in T2DM.

Solitary functioning kidney in children: clinical implications / Rim solitário em funcionamento em crianças: implicações clínicas

ABSTRACT Introduction: Children with solitary functioning kidney (SFK) are prone to develop long term problems, which are not well represented in the literature. The extent to which the presence of associated congenital anomalies of kidney and urinary tract (CAKUT) further de-stabilize renal function is to be addressed. Objective: This study was conducted to evaluate the etiology, presentation, presence of CAKUT, and renal damage in children with SFK. Methods: All children with SFK who presented to the department of pediatric surgery from March 2014 to May 2016 were included in the study. Children with malignancy were excluded from the study. Results: Of the 20 patients with SFK, 14 (70%) had primary SFK (8 with agenesis and 6 with multicystic dysplastic kidney), 6 (30%) belonged to secondary SFK group, among them 3 had pelviureteric junction obstruction, 2 had posterior urethral valves and 1 had vesicoureteric reflux. Eight (40%) had associated CAKUT, 4 (20%) were asymptomatic while 8 (40%) had UTI and 6 (30%) had hypertension. Ten (50%) patients had reduced glomerular filtration rate (GFR) suggesting compromised renal function. Conclusion: Children with SFK have high morbidity especially when associated with ipsilateral CAKUT. Long-term periodical follow up is essential in these patients to improve clinical outcome.

RESUMO Introdução: Crianças com rim solitário funcional (RSF) tendem a desenvolver problemas de longo prazo, que não são bem representados na literatura. Devemos abordar o quanto a presença de malformações congênitas do rim e do trato urinário (CAKUT) desestabiliza ainda mais a função renal. Objetivo: Este estudo foi realizado para avaliar a etiologia, apresentação, presença de CAKUT e dano renal em crianças com RSF. Métodos: Todas as crianças com RSF que se apresentaram no departamento de cirurgia pediátrica de março de 2014 a maio de 2016 foram incluídas no estudo. Crianças com doença maligna foram excluídas do estudo. Resultados: dos 20 pacientes com RSF, 14 (70%) tinham RSF primário (8 com agenesia e 6 com rim displásico multicístico), 6 (30%) pertenciam ao grupo RSF secundário, dentre eles 3 tinham obstrução da junção pelveuretérica, 2 tinham valvas uretrais posteriores e 1 refluxo vesico-uretral. Oito (40%) tinham ACRTU associado, 4 (20%) estavam assintomáticos, enquanto 8 (40%) tinham ITU e 6 (30%) tinham hipertensão. Dez (50%) pacientes apresentaram redução da taxa de filtração glomerular (TFG), sugerindo comprometimento da função renal. Conclusão: Crianças com RSF apresentam alta morbidade, especialmente quando associadas à CAKUT ipsilateral. O acompanhamento periódico a longo prazo é essencial nesses pacientes para melhorar o resultado clínico.

Occupational Heat Stress Impacts on Health and Productivity in a Steel Industry in Southern India

BACKGROUND: Workers laboring in steel industries in tropical settings with high ambient temperatures are subjected to thermally stressful environments that can create well-known risks of heat-related illnesses and limit workers’ productivity. METHODS: A cross-sectional study undertaken in a steel industry in a city nicknamed “Steel City” in Southern India assessed thermal stress by wet bulb globe temperature (WBGT) and level of dehydration from urine color and urine specific gravity. A structured questionnaire captured self-reported heat-related health symptoms of workers. RESULTS: Some 90% WBGT measurements were higher than recommended threshold limit values (27.2–41.7°C) for heavy and moderate workloads and radiational heat from processes were very high in blooming-mill/coke-oven (67.6°C globe temperature). Widespread heat-related health concerns were prevalent among workers, including excessive sweating, fatigue, and tiredness reported by 50% workers. Productivity loss was significantly reported high in workers with direct heat exposures compared to those with indirect heat exposures (χ2 = 26.1258, degrees of freedom = 1, p < 0.001). Change in urine color was 7.4 times higher among workers exposed to WBGTs above threshold limit values (TLVs). CONCLUSION: Preliminary evidence shows that high heat exposures and heavy workload adversely affect the workers’ health and reduce their work capacities. Health and productivity risks in developing tropical country work settings can be further aggravated by the predicted temperature rise due to climate change, without appropriate interventions. Apart from industries enhancing welfare facilities and designing control interventions, further physiological studies with a seasonal approach and interventional studies are needed to strengthen evidence for developing comprehensive policies to protect workers employed in high heat industries.

Revised IAP Growth Charts for Height, Weight and Body Mass Index for 5- to 18-year-old Indian Children.

Justification: The need to revise Indian Academy of Pediatrics (IAP) growth charts for 5- to 18-year-old Indian children and adolescents was felt as India is in nutrition transition and previous IAP charts are based on data which are over two decades old. Process: The Growth Chart Committee was formed by IAP in January 2014 to design revised growth charts. Consultative meeting was held in November 2014 in Mumbai. Studies performed on Indian children’s growth, nutritional assessment and anthropometry from upper and middle socioeconomic classes in last decade were identified. Committee contacted 13 study groups; total number of children in the age group of 5 to 18 years were 87022 (54086 boys). Data from fourteen cities (Agartala, Ahmadabad, Chandigarh, Chennai, Delhi, Hyderabad, Kochi, Kolkata, Madurai, Mumbai, Mysore, Pune, Raipur and Surat) in India were collated. Data of children with weight for height Z scores >2 SD were removed from analyses. Data on 33148 children (18170 males, 14978 females) were used to construct growth charts using Cole’s LMS method. Objectives: To construct revised IAP growth charts for 5-18 year old Indian children based on collated national data from published studies performed on apparently healthy children and adolescents in the last 10 years. Recommendations: The IAP growth chart committee recommends these revised growth charts for height, weight and body mass index (BMI) for assessment of growth of 5-18 year old Indian children to replace the previous IAP charts; rest of the recommendations for monitoring height and weight remain as per the IAP guidelines published in 2007. To define overweight and obesity in children from 5-18 years of age, adult equivalent of 23 and 27 cut-offs presented in BMI charts may be used. IAP recommends use of WHO standards for growth assessment of children below 5 years of age.

Antihyperlipidaemic Activity of Spermacoce Hispida Ethanolic Extract in Triton WR-1339 Induced Hyperlipidaemic Rats.

Hyperlipidaemia is the greatest risk factor of coronary heart disease. Currently available hypolipidaemic drugs have been associated with number of side effects. Herbal treatment for hyperlipidaemia has no side effects and is relatively cheap and locally available. Literature claims that Saponins are able to reduce hyperlipidemia. Based on high saponin content in herbal plants, Spermacoce hispida (S. hispida) was selected and the present study focus on the antihyperlipidaemic activity of ethanolic seed extract of S. hispida against triton-WR-1339 induced hyperlipidaemia in rats. Hyperlipidaemia was induced in Wistar rats by intraperitoneal (i.p) injections of Triton WR-1339 at a dose of 400 mg/kg body weight. S. hispida was administered orally at a dose of 200 mg/kg to triton WR-1339 induced hyperlipidaemic rats. After administration of S. hispida shows a significant decrease in the levels of cholesterol, phospholipids, triglycerides, LDL, VLDL and significant increase in the level of HDL in serum and liver tissues against triton induced hyperlipidaemic in rats. Therefore it effectively suppressed the triton induced hyperlipidemia in rats, suggesting the potential protective role in Coronary heart disease.

Segmentation and Classification of Jaw Bone CT images using Curvelet based Texture features.

The evaluation of jaw bone trabecular structure and quality could be useful for characterization and response of the bone for dental implants. Current clinical methods for assessment of bone quality at the implant sites largely depend on assessing bone mineral density using Dual energy X-ray absorptionometry. However, this does not provide any information about bone structure which is considered to be an equally important factor in assessing bone quality. This paper presents a novel approach for computer analysis of trabecular (or cancellous) bone structure using multiresolution based texture analysis to evaluate changes taking place in the architecture of bone with age and gender. The findings are compared with Hounsfield Units measured from the CT machine at different sites, which is a standard reference. Fifty patients were subjected to clinical CT to obtain the CT number and texture based architectural parameters respectively. In each site texture features were extracted using gray level co-occurrence matrices (GLCM), Run length matrices, Histogram and curvelet based statistical & co occurrence analysis. A very difficult problem in classification techniques is the choice of features to distinguish between classes. However the performance of any classifier is not optimized when all features are used. The feature optimization problem is addressed using Principle component analysis in terms of the best recognition rate and the optimal number of features. Testing this on a series of 120 image sections of trabecular bone with normal, partial and total edentulous patients correctly classified over 90% of the porous bone group with an overall accuracy of 87.8%–95.2%.The results shows that by using the Classification & Regression Tree approach the combination of the features from gray level and Ist order statistics achieved overall classification accuracy in the range of 87.8- 90.24%. Features selected from the curvelet based co occurrence matrix performed better with overall classification accuracy of 92.89%.In order to increase the success rate the classification is done using the combination of curvelet statistical features and curvelet co occurrence features as feature vector and using this, a mean success rate of 95.2% is obtained.

BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identifi cation of four novel mutations and high-frequency occurrence of 185delAG mutation.

Mutations in the BRCA1 and BRCA2 genes profoundly increase the risk of developing breast and/or ovarian cancer among women. To explore the contribution of BRCA1 and BRCA2 mutations in the development of hereditary breast cancer among Indian women, we carried out mutation analysis of the BRCA1 and BRCA2 genes in 61 breast or ovarian cancer patients from south India with a positive family history of breast and/or ovarian cancer. Mutation analysis was carried out using conformation-sensitive gel electrophoresis (CSGE) followed by sequencing. Mutations were identifi ed in 17 patients (28.0%); 15 (24.6%) had BRCA1 mutations and two (3.28%) had BRCA2 mutations. While no specifi c association between BRCA1 or BRCA2 mutations with cancer type was seen, mutations were more often seen in families with ovarian cancer. While 40% (4/10) and 30.8% (4/12) of families with ovarian or breast and ovarian cancer had mutations, only 23.1% (9/39) of families with breast cancer carried mutations in the BRCA1 and BRCA2 genes. In addition, while BRCA1 mutations were found in all age groups, BRCA2 mutations were found only in the age group of ≤40 years. Of the BRCA1 mutations, there were three novel mutations (295delCA; 4213T→A; 5267T→ G) and three mutations that have been reported earlier. Interestingly, 185delAG, a BRCA1 mutation which occurs at a very high frequency in Ashkenazi Jews, was found at a frequency of 16.4% (10/61). There was one novel mutation (4866insT) and one reported mutation in BRCA2. Thus, our study emphasizes the importance of mutation screening in familial breast and/or ovarian cancers, and the potential implications of these fi ndings in genetic counselling and preventive therapy.

uncommon cause of sciatica

A 67-year-old male patient underwent a left nephrectomy for a renal cell carcinoma. Thirty-eight months later, he presented with right sided lower backache, radiating to the posterior aspect of his thigh, calf and foot, paraesthesiae and numbness in the distribution of the right S1 and S2 dermatomes. The presumptive diagnosis was of nerve root entrapment secondary to a disc prolapse. MRI scan of the lumbosacral spine revealed an enlarged S1 root canal containing a solid solitary lesion suggestive of a neurofibroma of the S1 nerve root. Because of persistent pain, he underwent a right L5/S1 hemilaminectomy. A lesion originating from the right S2 nerve root was found and excised. The patient made an uneventful postoperative recovery with complete resolution of his right leg pain. The histopathological examination revealed a portion of the nerve root and dorsal root ganglion infiltrated by metastatic renal cell carcinoma. Although uncommon, nerve root infiltration by a metastasis should be included in the differential diagnosis of back pain and sciatica, especially if there is a previous history of malignant disease