Detailed Clinical Presentation Research Articles

Primary Laryngeal Tuberculosis: Our Experiences at a Tertiary Care Teaching Hospital in Eastern India

Primary laryngeal tuberculosis is a chronic bacterial infection of the larynx by Mycobacterium tuberculosis without affecting the lungs. It is a rare type of extrapulmonary tuberculosis seen in clinical practice. This study aimed to evaluate the clinical presentation, diagnosis, and treatment of primary laryngeal tuberculosis at a tertiary care teaching hospital in eastern India. This is a retrospective study of 11 cases of primary laryngeal tuberculosis managed between December 2013 and January 2018. The detailed clinical presentations, investigations, and treatment of primary laryngeal tuberculosis of the patients were studied. Primary laryngeal tuberculosis is common in men with mean age of 38.63 years. Hoarseness of the voice is the most common symptom, and the most common site for primary laryngeal tuberculosis is the vocal fold with ulcerative lesion. Endoscopic examinations of the larynx in laryngeal tuberculosis are nonspecific and are to be confused with laryngeal cancer. Histopathological and bacteriological examinations are confirmatory tests for the diagnosis. After confirmation of the diagnosis, all patients had taken antitubercular therapy for 6 months, which gave excellent outcome. Delayed diagnosis or untreatable laryngeal tuberculosis will lead to high morbidity and mortality of the patient. Although primary laryngeal tuberculosis has nonspecific clinical presentations, it is very important to have a high index of suspiciousness to rule out tubercular lesion in the larynx as this disease is curable.

Hyperglycemia caused by mutation of GCK gene in 10 patients analysis of clinical and mutation characteristics

Objective: To explore the gene mutation characteristics and detailed clinical presentations of hyperglycemia caused by GCK mutations in 10 patients. Methods: The clinical and follow-up data of 10 patients with hyperglycemia caused by mutation of GCK gene were reviewed. The patients were ascertained between January 1, 2014 and August 31, 2018 at the Department of Pediatrics, the First Affiliated Hospital of Zhejiang University and Ningbo Women & Children's Hospital. Clinical data were collected, including age, gender, main complaint, family history, fasting blood glucose, fasting blood insulin, 2-hour blood glucose, 2-hour blood insulin after oral glucose tolerance test, glycosylated hemoglobin, anti-glutamic acid decarboxylase antibody and body mass index. Mutations of GCK gene were detected by Sanger sequencing or high-throughput sequencing of diabetes-related genes in the patients and their family members. Results: There were ten patients, 8 of them were male, 2 were female.The ages at diagnosis varied between 4.7 to 12.3 years. The patients usually did not have obvious clinical symptoms of diabetes mellitus. Most of them were unexpectedly found to have hyperglycemia and with impaired glucose metabolism in three consecutive generations. The fasting blood glucose of patients was 6.8-7.7 mmol/L, 2-hour postprandial blood glucose was 7.8-11.6 mmol/L. Fasting blood insulin was 0.5-8.5 mU/L, glucose tolerance test results showed that 2 h postprondial blood insulin was 1.3-55.4 mU/L. The level of glycosylated hemoglobin was 6.1%-6.8%. Anti-glutamic acid decarboxylase antibody was negative in all patients. The GCK mutations identified in patients and one of their parents were located at exon5 (4 cases), exon9 (2 cases), exon2 (1 case), exon4 (1 case), exon6 (1 case) and exon7 (1 case). Conclusions: Most of the hyperglycemia patients caused by GCK mutations did not have typical clinical symptoms of diabetes. The fasting blood glucose was slightly elevated. Abnormal glucose tolerance test results were found in all 10 patients. Three consecutive generations of family had impaired glucose metabolism. GCK mutations located at exon 5 were common in 10 cases. There was no correlation between type of mutations and plasma glucose levels in domestic and international researches. When fasting glucose was found abnormal in clinic, a complete family history should be taken and the GCK gene should be sequenced to confirm the diagnosis in time.

Non diabetic chronic leg ulcers: etiology and management

Background: Chronic leg ulceration has varied etiologies and a systemic approach towards its pathogenesis, definitive diagnosis and optimal treatment is the need of the hour. Paucity of research data on non-diabetic chronic leg ulcer becomes the rational of present study.Methods: Total number of 60 patients with non-healing ulcer below knee and above ankle for more than 6 weeks duration were included in this observational study. A detailed clinical presentation, relevant biochemical, microbiological and imaging investigations were recorded. The management of these ulcers was based on its etiology with an approach to conservative management (antibiotics, daily dressings, improvement in nutritional status) to surgical debridement, wide local excision followed by split thickness/full thickness skin grafting. Outcome of present study was in terms complete or partial healing of ulcer, persistence or recurrence of ulcer.Results: Majority of patients (28.33%) with chronic leg ulcer presented during sixth decade with a male to female ratio of 5:1. The mean duration of chronicity of ulcer was 17.75 months with standard deviation of 7.83 months. Trauma was the commonest etiological factor (45%) followed by venous insufficiency (31.66%). About 31.66% of ulcers were managed conservatively and 68.32% by surgical procedure. Complete healing rate was found in 66.67% patients, persistence of ulcer in 18.32%, partial healing in 11.67% patients and 1.67% patient showed recurrence.Conclusions: Trauma and venous etiology were commonest cause of chronic leg ulcer. A comprehensive etiological assessment and judicious use of conservative or surgical therapy are pivotal in management of these ulcers.

Clinical presentation of reported lyme disease cases among children from Quebec (Canada) between 2009-2017

Purpose: In southern Canada, Lyme disease (LD) is an emerging tick-borne disease caused by Borrelia burgdorferi. Cases have increased from 144 to 987 between 2009 and 2016. The infection is more frequent in children and older adults probably due to increased exposure to high risk areas during outdoor activities. The aim of this study is to describe the clinical presentation and course of illness among children reported in Monteregie, an emerging area from Quebec province located north of New York state. Methods & Materials: This is a retrospective cohort study of all cases among children (0-18 years) reported to the Monteregie Public Health Directorate between January 2009 and December 2017. Public health records were reviewed. These records are based on information obtained from treating physician and patient at the time of reporting. Follow-up interviews were conducted with patients (or their parents) to assess outcome for 63 cases reported before December 2016. Variables studied included sociodemographic data, detailed clinical presentation and evolution, laboratory results, hospitalization and exposures. Results: Eighty-five confirmed, probable or suspected cases were reported. Half occurred in the 0-6 age-group. Erythema migrans was mentioned by 73% of cases but only 53% of all cases were reported at the early localized stage. Neurological symptoms (18%) were as frequent as arthritis (16%). Onset of arthritis occurred more often between October and May (55%) compared to other presentations (10%, p < 0.001). The follow-up interview was completed for 43 cases (68%) a mean of 3 years after the onset of the disease. Symptoms disappeared within 6 months after treatment in 38 cases (88%) and lasted between 6 and 12 months in 3 cases (7%). Two cases that initially presented with arthritis were still symptomatic respectively 2 and 4 years after treatment. Conclusion: Lyme disease is emerging in southern parts of Canada. Younger children are at higher risk and patients can seek advice any month of the year. It is important to include LD in the differential diagnosis of cutaneous, neurological or musculoskeletal symptoms in children exposed to at-risk areas. Early diagnosis and treatment could decrease the occurrence of sequelae.

Pediatric Laryngeal Papillomatosis: Experiences at an Indian Teaching Hospital

Background and Aims: Laryngeal papillomatosis is an uncommon disease in pediatric age caused by the human papilloma virus, which presents as warty, exophytic growths in the larynx. Children having laryngeal papillomatosis frequently present with dysphonia. It can lead to severe airway obstruction and voice change. The aim of this study was to assess the detailed clinical presentations, treatment options, and outcome of the laryngeal papillomatosis in pediatric patients. Materials and Methods: This was a prospective study carried out among pediatric age group (n = 21) and among those who underwent surgical treatment with different modalities such as coblation, microdebrider, and laser on diagnosed cases of laryngeal papillomatosis during December 2015 to March 2019. Clinical presentations and detailed patient profile including maternal aspects were documented. Details of previous surgeries conducted on the child’s larynx were also recorded. Results: Dysphonia is the most common clinical presentation. Of 21 children, 12 were boys and 9 were girls. The mean age was 11.52 years. No child with a history of immunodeficiency or exposure to smoking was reported. Of 21 children, 9 had a history of previous surgeries for laryngeal papillomatosis. There were five primiparous mothers in this study and they are considered as as risk factors. One child underwent tracheostomy due to compromised airway by laryngeal papillomatosis. Coblation and microdebrider are common and effective techniques performed among children with laryngeal papillomatosis. Conclusion: Coblation and microdebrider were found to be safe and cost-effective than laser and coblation. Only maternal risk factor in this study was primiparous mother. Children with laryngeal papillomatosis were associated with multiple surgeries in the past due to recurrence and aggressive nature of the disease. Very young children and patients with tracheostomy needed strict follow-up in case of severe diseases.

293. Concurrent Atlantoaxial Septic Arthritis and Septic Thrombosis of the Ophthalmic Vein due to Staphylococcus aureus: A Case Report and Review of the Literature

BackgroundAtlantoaxial joint septic arthritis and superior ophthalmic vein thrombosis (SOVT) are uncommon sequelae of infections. Here, we describe a patient who presented concurrently with two uncommon manifestations of a common pathogen, methicillin-susceptible Staphylococcus aureus (MSSA), and review the associated literature. A 68-year-old man presented to the hospital with a 4-day history of worsening neck pain, right shoulder pain, and one episode of diplopia. He reported left wrist pain and swelling 3 weeks prior to presentation. A whole body 18F-positron emission tomography scan detected abnormal hypermetabolic activity in the atlantoaxial joint and in the right shoulder (Figure 1A and B). Magnetic resonance imaging revealed the presence of right SOVT (Figure 1C and D). Blood cultures grew MSSA. He underwent debridement of his right shoulder and was started on intravenous cefazolin. Conservative management of his atlantoaxial septic arthritis was unsuccessful and several weeks into his antibiotic course, he developed right-arm weakness for which he underwent C4 fusion to address atlanto-axial instability.MethodsWe reviewed previous reports describing atlantoaxial septic arthritis (n = 6) and septic ophthalmic vein thrombosis (n = 6).ResultsPrevious reports of atlantoaxial septic arthritis detailed clinical presentations of subacute to acute onset of neck pain with fever, five of which were due to S. aureus. Four of the cases required a surgical intervention involving the cervical spine. Previous reports of SOVT describe patients ipsilateral proptosis, ptosis and chemosis. In all six cases, the SOVT developed in concurrence with a head and neck infections. Three cases required surgery or an interventional procedure for source control Two cases recovered completely and three cases improved but with diplopia or permanent loss of vision in the affected eye.ConclusionEven with early recognition and prompt initiation of antibiotic therapy, our patient still suffered from long-term sequelae atlantoaxial septic arthritis and SOVT, a testament to the potential for MSSA to cause severe infections. Disclosures All authors: No reported disclosures.

Analysis of detailed clinical characteristics of spinal subdural hematoma following lumbar decompression surgery

BackgroundOnly a few reports have described symptomatic patients with postoperative spinal subdural hematoma (SSH) for which further surgery may have been required. No report has focused on the detailed clinical characteristics of postoperative SSH, including asymptomatic cases, in a case series. The reasons for this may be that SSH is an implicitly recognized rare entity, and there is no established consensus regarding the significance of performing postoperative magnetic resonance imaging (MRI) for all cases and the time at which to perform it. In this case-controlled retrospective analysis, we attempted to identify a detailed clinical presentation of SSH after open lumbar decompression surgery using MRI taken uniformly at 14 days before hospital discharge. MethodsWe retrospectively studied 196 patients who underwent routine MRI following open lumbar spinous process-splitting decompression surgery between 2012 and 2016. We assessed the frequency, clinical presentation, and radiological findings of SSH that developed postoperatively. Furthermore, we used a multivariate analysis to identify factors that were postulated to increase the risk of SSH postoperatively. ResultsNone of the patients developed serious neurologic deficits, such as paresis or bladder and bowel dysfunction that required emergency evacuation. However, our results showed that postoperative SSHs, including asymptomatic SSHs, developed considerably frequently (43/182 patients, 23.6%). Furthermore, of the 43 patients with SSH, three presented with new postoperative neurologic findings that were strongly suspected to be associated with SSH. Multivariate analysis identified that preoperative hypertension (adjusted odds ratio [aOR]: 2.501, P = 0.018), anticoagulant therapy (aOR: 2.716, P = 0.021), and multilevel procedures (aOR: 2.327, P = 0.034) were significant risk factors of postoperative SSH. ConclusionsSpine surgeons should be aware that postoperative SSH is not rare and is a potential cause of recurrent pain or neurologic deterioration perioperatively.

Clinical study and management of congenital inguinal hernia in a tertiary care teaching institute

Background: Inguinal hernia in children is a quite common presentation and inguinal herniotomy is a frequently done procedure in children for inguinal hernia. Inguinal hernia has a higher familiar incidence and it has been observed with increasing frequency in twins and siblings of patient. The aim of the study is to evaluate the clinical presentation, management and outcomes of the patient with congenital inguinal hernia undergoing herniotomy. Methods: This prospective study includes 54 patients who were operated for congenital inguinal hernia at Bundelkhand Medical College and Associated Hospital Sagar from April 2015 to October 2016. Patients of age group 2 months to 12 years were included in the study. Patients presenting with acute scrotal conditions like incarcerated hernia, strangulated hernia and obstructed hernia were excluded from the study. A detailed history, clinical presentation and routine investigations, were done in all cases. Results: In the present study most of the patients were male. Inguinal hernia can occur at any age but majority of the patients 53.70 % are seen between 1-5 years of age. Swelling in the inguinal region was the commonest symptoms. Incidence is slightly higher on the right side. Almost all of the inguinal hernias in paediatric age group are of indirect type, which develops due to congenitally patent processes vaginalis. The most common post-operative complication was reactive hydrocele and all of them resolved by the second week. No recurrence was reported in the study. Conclusions: Inguinal hernia is a common surgical condition in children. Early surgical intervention in form of inguinal herniotomy is the most appropriate management of inguinal hernia in children

Thromboembolic Events Secondary to Endoscopic Cyanoacrylate Injection: Can We Foresee Any Red Flags?

Background Gastric varices (GV) are associated with high morbidity and mortality in patients with portal hypertension. Endoscopic cyanoacrylate injection is the first-line recommended therapy for GV obliteration. This study aims to explore the reason behind related adverse events and better prevent its occurrence. Methods A retrospective case series study was conducted from January 1, 2013, to December 31, 2016, to identify patients who experienced severe adverse events secondary to endoscopic cyanoacrylate injection. A literature review of similar cases was performed on two medical databases, Medline and Embase. Results A total of 652 patients underwent cyanoacrylate injection at our center within the study duration. Five cases of severe adverse events related to the use of tissue adhesives were identified. Detailed clinical presentation, patient treatment, and outcomes were reviewed and analyzed. Twenty-seven similar cases were identified based on the literature review providing further insight into the study. Conclusion Although rare in incidence, systemic embolism associated with cyanoacrylate injection is often fatal or debilitating. This report may raise awareness in treatment protocol, including the necessity of preoperative angiographic studies, to avoid similar adverse events in clinical practice.

Vertigo among elderly people: Our experiences at a tertiary care teaching hospital of Eastern India

Objective: This study aimed to evaluate the etiology, clinical profile, morbidity, diagnosis, and management of vertigo among elderly patients at a tertiary care teaching hospital of Eastern India. Materials and Methods: Seventy-two elderly patients were diagnosed as cases of peripheral vertigo above the age of 60 years enrolled in this study. The detailed etiology, clinical presentations, diagnostic methods, and treatment were assessed. Results: The most common peripheral vestibular disorders were benign peripheral paroxysmal positional vertigo (38.38%), idiopathic vestibulopathy (9.72%), migraine-related vertigo/migraine vestibulopathy (26.38%), Meniere's disease (5.55%), and acute vestibular neuritis (6.94%). Diabetes mellitus is a common systemic disorder associated with elderly vertigo patient. Mental disorders such as anxiety (18.05%), depression (15.27%), and phobia (12.5%) were seen in this study among elderly vertigo patients. Conclusion: This retrospective study revealed that 72 of elderly patients had been diagnosed with peripheral vertigo. The majority of vertigo patients are of benign paroxysmal positional vertigo with unilateral horizontal canal involvement among elderly patients in this study, followed by migrainous vestibulopathy, idiopathic vestibulopathy, and vestibular neuritis. Proper diagnosis and management help to make a better and quality life in elderly patients suffering with vertigo.

Evaluation of idiopathic transverse myelitis revealing specific myelopathy diagnoses.

To evaluate specific myelopathy diagnoses made in patients with suspected idiopathic transverse myelitis (ITM). A total of 226 patients 18 years and older were referred to Mayo Clinic Neurology for suspected ITM from December 1, 2010, to December 31, 2015. Electronic medical records were reviewed for detailed clinical presentation and course, laboratory and electrophysiologic investigations, and neuroimaging to determine the etiology. Current diagnostic criteria for ITM and alternative myelopathy diagnoses were applied. All cases where any discrepancy was suspected from the final reported clinical diagnosis were reviewed by each author and a consensus final diagnosis was made. The diagnostic criteria for ITM were met in 41 of 226 patients (18.1%). In 158 patients (69.9%), an alternative specific myelopathy diagnosis was made: multiple sclerosis or clinically isolated syndrome, 75; vascular myelopathy, 41; neurosarcoidosis, 12; neuromyelitis optica spectrum disorder, 12; myelin oligodendrocyte glycoprotein myelopathy, 5; neoplastic, 4; compressive, 3; nutritional, 3; infectious, 2; and other, 2. A myelopathy was not confirmed in 27 patients. Time from symptom onset to final clinical diagnosis in patients without ITM was a median of 9 months (range 0-288). Fifty-five patients (24%) required treatment changes according to their final clinical diagnosis. The majority of patients with suspected ITM have an alternative specific myelopathy diagnosis. A presumptive diagnosis of ITM can lead to premature diagnostic conclusions affecting patient treatment.

Study of clinical presentation of falciparum malaria and correlation with laboratory indices of poor prognosis

Background: Severe malaria is a chief cause of death in the North-eastern states of India. The criteria for defining severe malaria have fluctuating over the last many years. Detection of both specific and sensitive clinical features of falciparum malaria to predict death is required to improve clinical management. Therefore, the objective of present study was designed to investigate the clinical presentation of falciparum malaria and correlation with laboratory indices of poor prognosis.Methods: This prospective observational study was conducted at the R N T Medical College Udaipur, India. Total 53 malarial patients who tested positive for plasmodium falciparum were included. A detailed clinical presentation, haematological and biochemical variables were scrutinized. SPSS-16 software was used for statistical analysis.Results: Out of 53 patients, 6 (11.3%) patients had (&gt;5%) parasitaemia, 3 (5.66%) patients had schizonts in peripheral blood film, 2 (3.77%) patients had serum creatinine &gt;3.0 mg%, 4 (7.54%) patients had raised SGOT and SGPT and all have been died while 11 (20.75%) patients had haemoglobin &lt;7.1 gm% and amongst these 3 (27.27%) patients were died. Out of 53 patients, 13 patients (24.53%) died. Most of the patients had over lapping features with anemia (13.32%), ARDS, 16.98 %, Jaundice 9.43% and impaired consciousness (32.96%). These four features were responsible for high incidence of mortality in malaria.Conclusions: Decisively 29 (54.71%) patients were having laboratory indices of poor prognosis and amongst them 19 (65.51%) patients were died. Therefore, our findings confirm that patients who had P. falciparum malaria with laboratory indices of poor prognosis had high incidence of mortality.

P.48 - Novel compound heterozygous mutations in PLEC gene causing epidermolysis bullosa simplex with muscular dystrophy, case series of two affected sisters

Epidermolysis bullosa simplex with muscular dystrophy (EBSMD) is a rare clinical entity characterized by childhood onset of progressive muscular dystrophy and blistering skin changes. It is caused by homozygous or compound heterozygous mutations in the plectin gene (PLEC). Genetic defects have been reported in a limited number of patients. The precise phenotype-genotype correlations have yet to be defined. Here we describe two affected sisters with detailed clinical presentation, exam findings including timed motor function tests, MRI images and results, and confirmed novel PLEC compound heterozygous mutations. CASE SERIES: #1 Five-year-old female born premature at 25 weeks was evaluated for motor delay. Epidermolysis bullosa (EB) was diagnosed at age 5 months with recurrent skin blisters. She sat alone at 18 months, walked at 2 years of age and never could jump with both feet. Physical exam revealed small stature and dysmorphic findings including micrognathia, high-arched palate, poor dentition with erosions, hand and foot blisters and nail deformation. Neurological examination showed generalized muscle weakness, decreased reflexes and delayed time-with-sit-to-stand, 30-feet-run, and 4-steps-climbing. CPK was elevated at 519 unit/L. Muscle MRI showed asymmetric atrophy of the quadriceps muscles, mild fatty infiltration in the quadriceps and gluteus maximus muscles and subtle increased T2 signal in the quadriceps muscles bilaterally. Genetic testing confirmed heterozygous mutations in PLEC (c.11912delA and c.6276dupA) causing frame shift stacking leading to premature stop codons. #2 Three-year-old sister was also diagnosed with EB was found to have same heterozygous PLEC mutations. She had delayed motor development and elevated CPK level. Muscle MRI was unremarkable. We presented clinical evidence that the novel compound heterozygous PLEC mutations are pathogenic for EBSMD.

Clinical study and management of peritonitis secondary to perforated peptic ulcer

Background: Perforated peptic ulcer is the most common cause among all causes of gastrointestinal tract perforation which is an emergency condition of the abdomen that requires early recognition and timely surgical management. Peptic ulcer perforation is associated significant morbidity and mortality. The aim of study is to evaluate the incidence, clinical presentation, management and outcomes of the patient with peptic ulcer perforation undergoing emergency laparotomy.Methods: This retrospective study includes 45 patients who were operated for perforated peptic ulcer peritonitis at Bundelkhand Medical College and Associated Hospital, Sagar from March 2015 to April 2017. Paediatric patients of age less than 14 years, patients presenting as recurrent perforation were excluded from the study. A detailed history, clinical presentation and routine investigations were done in all cases.Results: In the present study, most of the patients were male. Most of these patients presents with clinical signs of peritonitis between 24-48 hours after onset of the pain. Among the patients of peptic ulcer perforation, duodenal perforation (93.3%) is more common and which is the most common cause of perforation peritonitis. The diagnosis is made clinically and confirmed by presence of gas under diaphragm on radiograph. Exploratory laparotomy with simple closure of perforation with omental patch was done in all cases. The most common post-operative complication was wound infection (57.5%). The overall mortality was 11.1%.Conclusions: Late presentation of peptic ulcer perforation is common with high morbidity and mortality. Surgical intervention with Graham’s omentopexy with broad spectrum antibiotics is still commonly practiced.

A study of dermatoses in patients attending pediatric OPD in a tertiary care hospital of Gandhinagar, Gujarat, India

Background: Skin diseases in paediatric population are common all over the world. There is a wide variation in the presentation of Dermatoses in various studies. The variation among dermatoses can possibly be due to region of study, prevalent environmental factors, type of population studied, and hygiene and nutritional status and environmental factors. The objective of this study was to study prevalence, pattern of presentation and aetiologies of various dermatoses in paediatrics.Methods: A prospective, observational, single center study involving 500 patients of Dermatoses was carried out in a pediatric outpatient department. Detailed history, clinical presentation and other relevant parameter were recorded in a case record form and analyzed.Results: Majority of patients with dermatoses (39.40%) belong to age group of 6 - 16 years with male preponderance. Etiological analysis showed infections and infestations were most common dermatoses. Bacterial infection (184, 36.80%) was most common followed by viral (87, 17.40%), parasitic (51, 10.20%) and fungal (25, 5.00%) infection. Dermatitis was present in 30.6% patients. Diaper dermatitis (19 patients) was the commonest dermatitis present in infants while eczema and urticaria were the commonest dermatitis in school going children. Pyoderma was the commonest dermatoses in this study, present in 111 patients (22.20%) followed by varicella (14.40%), impetigo (12.80%); scabies (10.20%), eczema (10.20%) and urticaria (7.60%).Conclusions: Dermatoses in children are a wide spread problem which are responsible for significant morbidity in children. The high incidence of infections and infestations are possibly due to poverty, overcrowding, undernutrition, poor hygiene and lack of health education. Skin of the young children is more prone to develop skin disease.

The molecular diagnosis and their detailed clinical presentations in 5 cases of maturity-onset diabetes of the young

Objective To analyze the genetic changes and detailed clinical presentations of 5 maturity-onset diabetes of the young (MODY) cases in order to enhance the knowledge about MODY in children. Methods Seventy-eight patients initially diagnosed as diabetes mellitus between January 1 and December 31, 2015 in Capital Institute of Pediatrics were retrospectively studied.Nine of them were suspected of MODY, and 5 patients were diagnosed as MODY through gene test.Clinical informations were collected including age, gender, main complaint, family history, body mass index(BMI), fasting blood glucose, fasting blood insulin, 2-hour blood glucose and insulin after oral glucose tolerance test and glycosylated hemoglobin.The blood glucose was monitored dynamically in 2 patients.Targeted capture panel was designed to capture the 16 genes related to MODY, including 12 genes from MODY1 to MODY13 type and 4 genes with weak evidence of MODY according to Human Gene Mutation Database Exome capture, and Next-Generation sequencing on a HiSeq2000(Illumina) was performed.After bioinformatics analysis, all prioritized variants detected in patients were validated by Sanger sequencing, including the probands and their parents. Results Five patients were confirmed as MODY by molecular diagnosis, accounting for 6.4% of all the 78 patients in 2015.The ratio of male to female was 23.The ages at diagnosis ranged from 2 to 11 years old, and the median age was 3 years old.Two cases were found to have abnormal blood glucose in physical examination.The rest 3 cases were discovered with abnormal blood glucose during hospitalization because of pneumonia (1 case)or diarrhea(2 cases). In 4 cases, their mothers had gestational diabetes history, in 1 case the father suffering from diabetes.BMI ranged 15.68-23.40 kg/m2.Fasting blood glucose was 6.3-7.2 mmol/L.Fasting blood insulin was 0.5-8.0 IU/L.Glucose tolerance test results showed that blood glucose of the patients was 8.6-10.8 mmol/L after 2 hours.The level of glycosylated hemoglobin was 5.5%-6.7%.Blood glucose was 3.9-13.0 mmol/L.All the 5 confirmed patients were caused by GCK gene mutation (MODY2 type). The mutations detected were located at Exon7(2 cases), Exon4(1 case), Exon5(1 case), and Exon10(1 case). Conclusions All the confirmed MODY patients were identified either through medical exam or infectious disease, and all had positive family history.Their BMI ranged widely.Fasting blood glucose was slightly elevated and glycosylated hemoglobin was normal or slightly elevated, but fasting blood insulin was normal in all the patients.Abnormal glucose tolerance test results were found in all 5 patients.Glycosylated hemoglobin was normal or slightly elevated.MODY2 was the only subtype detected in this group, which indicated that the common type in children was different from that in adults. Key words: Maturity-onset diabetes of the young; Glucokinase; Next-generation sequencing

Etiological and Clinical Characteristics of Hepatocellular Carcinoma at Presentation to Tertiary Care Hospital in South India

Background and Aim: To analyze the etiology, clinical presentation and tumor characteristics of Hepatocellular carcinoma (HCC) presenting to tertiary care hospital. Methods: This is an observational retrospective descriptive study. All patients data who were diagnosed to have HCC from 2008 to 2014 were included. HCC diagnosis was based on EASL & AASLD guidelines. Detailed clinical presentation, etiological workup data, laboratory parameters, child status were analyzed. BCLC staging was done. Results: One hundred and seventy two patients (172) were diagnosed to have HCC during this period, out of which two patients were non cirrhotic. One hundred and fifty four patients (89%) were male, 18 (10.4%) were females. Mean age was 56.3 years (17–86 yrs). Hepatitis B alone was seen in 44 patients (25.8%), with alcohol in 30 patients (17.6%). alcohol alone in 33 patients (19.4%), NASH in 22 patients (12.9%), HCV in 1 patients (6.4%). HCC presenting as first presentation in nearly half the patients. AFP was >200 in 107 patients (62.9%), while it was normal in 4 patients (8.2%), PVT was present in 100 patients (58.8%), About 72 (42.2%) patients belong to BCLC C, 52 patients (30.53%) to D. Conclusion: Hepatitis B was the most common cause of HCC followed by alcohol in our population. Almost all the patients had underlying cirrhosis. Nearly in half the patients it was first presentation. More than two third of patient present in advanced stage. The authors have none to declare.

Clinical, angiographic profile and percutaneous endovascular management of Takayasu's arteritis – A single centre experience

ObjectiveAim of the study was to evaluate clinical, angiographic profile and percutaneous endovascular management of Takayasu's arteritis. BackgroundTakayasu's arteritis is a chronic inflammatory vasculitis affecting the aorta and its major branches. Although it is more prevalent in Asia, the distribution of the disease is worldwide with different vascular involvement patterns and clinical manifestations. MethodsIn this prospective study a total of 50 consecutive patients who were reported as having Takayasu's arteritis between January 2010 and April 2016 were evaluated. Detailed clinical presentation and angiograms of all patients were analysed. Results50 patients were analysed during study period. Among 50 patients, 43(86%) were female and 7 (14%) were male. Average age of presentation was 26.92years. Most common clinical presentation was claudication (74%) followed by, musculoskeletal symptoms (48%), fatigue (46%), weight loss (22%), headache (22%), visual disturbances (16%), syncope (10%), dyspnoea (20%). Most common features were absent/diminished pulses (80%), difference in blood pressure (80%), followed by bruit (70%)hypertension (64%), cerebrovascular accident (8%),heart failure (8%) and aortic regurgitation (4%). According to the new angiographic classification, angiographic type I (40%) was encountered most frequently, followed by type III (30%), type V (16%), type IIb (8%), type IIa (2%), and type IV is (4%). Angioplasty was the main stay of treatment in 66% of the patients, remaining 34% of them were treated medically either with corticosteroids or methotrexate. ConclusionTakayasu's arteritis is a rare disease, affects mainly women, manifestations range from asymptomatic disease, found as a result of impalpable pulses or bruits, to catastrophic neurological impairment. Takayasu's arteritis is the common cause of renovascular hypertension. Angiography remains the gold standard for diagnosis. Angiographic evaluation and percutaneous transluminal angioplasty with stenting is useful in selected cases.

Défaillance dans la construction des enveloppes psychiques et conséquences somatopsychiques chez le bébé. À partir d’une observation, Madras 2 mois 15 jours

This article offers to show how a failure in the construction of the first psychic envelopes can lead to a somatization in babies and what are the possible implications in all regulations and early intersubjective relations. A pediatric research on somatic expression among babies aged between 0 and 4months showed us different backgrounds related to psychosomatic disorganization. The detailed clinical presentation of Madras, a baby aged 2months and 15 days shows the consequences of difficulties in the capacity and construction of the psychic envelopes. This reveals the importance of the quality of early relationships and their vicissitudes, also how body and psyche are built in a close interrelationship and dependence. The article also allows to observe how the conceptual model of psychic envelopes applies to early interactions of the triad. The baby's somatic expression is considered here as a response to a lack of a container. It is also the result of evacuation of excessive unrelated residual tensions.

Subcutaneous mycoses in coastal Karnataka in south India.

Subcutaneous mycoses are chronic, localized infections of the skin and subcutaneous tissue which occur following traumatic implantation of the etiological agent. The causative organisms are soil saprophytes of regional epidemiology with varying ability to adapt to the tissue environment and elicit disease. This study was conducted to evaluate the various types of subcutaneous mycoses, including actinomycotic mycetomas, in south coastal Karnataka, India. Between January 2005 and January 2013, a total of 25 patients were diagnosed with subcutaneous mycoses based on a detailed clinical history and presentation, histopathology, and culture of organisms. Chromoblastomycosis was the infection most commonly seen (n=16 patients, 64%), followed by mycetoma (n=4, 16%), sporotrichosis (n=4, 16%), and rhinoentomophthoromycosis (n=1, 4%). The extremities were the most common site of involvement, with the lower limb being most affected (64%). Males were more commonly afflicted (64%) than females (36%). Most patients were agricultural workers, although preceding trauma was noted in only three patients. The majority of patients responded well to therapy and were disease-free on follow-up. Subcutaneous mycoses are a rare group of disorders. Chromoblastomycosis is the most frequent subcutaneous fungal infection in south India. Morphologically, chromomoblastomycoses present as verrucous, ulcerative, nodular, or eczematous lesions. Clinical diagnosis is important as culture is often negative. The incidence of infection is higher among rubber tappers. It is important to clinically differentiate chromoblastomycosis from tuberculosis verrucosa cutis. Most of the subcutaneous mycoses respond well to treatment, with the exception of rhinoentomophthoromycosis, which is a rare form of deep mycosis with associated mutilation. Eumycetomas are not observed in this part of India.