Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases

2021 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Sahana M. Srinivas ◽  
Priya Gupta ◽  
Varunvenkat M. Srinivasan ◽  
Sanjay K. Shivappa ◽  
...  
Keyword(s):  
Complete Blood Count ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Skin Lesions ◽  
Limb Movements ◽  
Female Ratio ◽  
Infantile Systemic Hyalinosis ◽  
Study Results ◽  
Spindle Cell Proliferation ◽  
Function Test

AbstractInfantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2-CMG2/Human anthrax toxin-2 ANTXR2 resulting in spindle cell proliferation, altered collagen metabolism along with extensive deposition of hyaline material in the skin and several tissues. To date only a few cases have been reported in the literature, hence we reported this series. This study is a retrospective chart review of infants diagnosed with infantile systemic hyalinosis from January 2015 through December 2020 at a tertiary care children's hospital in South India. The mean age of presentation was 9.4 months, with a male to female ratio of 1:5. All children were born of consanguineous marriage except one child. All children had symptoms at birth, painful limb movements, multiple joint stiffness, gingival thickening, skin lesions around perianal, perioral areas, and frog-like position. Three (50%) children had stiff skin. Routine tests including complete blood count, liver function test, renal function test, creatine phosphokinase, nerve conduction studies, and metabolic tests were normal in all children. Skin biopsy showed hyalinized collagenous tissue in the dermis. Genetic study results of two cases revealed pathogenic variants in ANTXR2 gene. Infantile systemic hyalinosis should be considered in infants presenting with painful limb movements. The diagnosis helped in avoiding unnecessary investigations and prognostications. The genetic information from proband mutation helped in prenatal diagnosis in two families.

scholarly journals Halitosis: Its Aetiology and Psychosocial Impact- A Hospital Based Study

2021 ◽  
Vol 29 (2) ◽  
pp. 145-150
Author(s):  
Gopika Kalsotra ◽  
Monica Manhas ◽  
Sachin Gupta ◽  
Heemani Bhardwaj ◽  
Parmod Kalsotra ◽  
...  
Keyword(s):  
Social Life ◽  
Laryngopharyngeal Reflux ◽  
Systemic Disease ◽  
Tertiary Care ◽  
Neck Surgery ◽  
Psychosocial Impact ◽  
Care Hospital ◽  
Female Ratio ◽  
Study Results ◽  
A Prospective Study

Introduction Halitosis means bad or unpleasant odour from oral cavity. It causes embarrassment to the patients and affects their social life and communication. This study aims to find the causes of halitosis and to assess its psychosocial impact. Materials and Methods A prospective study was conducted in the department of Otorhinolaryngology and Head Neck Surgery in a tertiary care hospital. It included 165 patients, presenting to the ENT OPD with chief complains of oral malodour for at least 3 months. The patients in the age above 15 years and below 75 years, irrespective of gender, were included in the study. Results The age of the patients ranged from 15 to 75 years with a mean age of 52.24 ± 15.67 with male: female ratio of 7:10. The most common cause of halitosis in the present study included chronic rhinosinusitis (38.7%), gingivitis/periodontitis (19.39%), tonsillitis (4.84%), laryngopharyngeal reflux (2%), deep neck space infections (1.2%). In 23.56%, the halitosis was a symptom of an underlying malignancy. Conclusion Halitosis from an extra oral origin can be the sign of an underlying systemic disease or malignancy. The consultation should be done with the periodontist, ENT specialist and a physician.

CLINICO-MYCOLOGICAL PROFILE OF DERMATOPHYTOSIS AND DERMATOMYCOSIS AMONG PATIENTS ATTENDING OUTPATIENT DEPARTMENT IN A TERTIARY CARE HOSPITAL.

2021 ◽  
pp. 1-3
Author(s):  
Kapaganty V Chakradhar ◽  
Dilruba Begum ◽  
Ruby Devi N ◽  
Raya Roja
Keyword(s):  
Tertiary Care ◽  
Fungal Growth ◽  
Trichophyton Mentagrophytes ◽  
Skin Lesions ◽  
Microsporum Gypseum ◽  
Care Hospital ◽  
Female Ratio ◽  
Hair Samples ◽  
Mycological Examination ◽  
Male To Female

This study was conducted to determine the common isolates causing dermatophytosis and other fungi causing dermatomycosis in patients presenting with skin lesions with or without involvement of hair and nails. A total of 75 patients were included in the study with 86 distinctive clinical lesions, of which Tinea corporis (46.7%,) was the most predominant followed by T. cruris (22.7%), T. unguium (14.7%) with a male to female ratio of 1.3:1. KOH mounts were made from samples and examined for fungal elements and samples were sent to Microbiology laboratory for culture, and identication among them 77.3% were skin scrapings alone and 14.7% were nail clippings along with skin scrapings and 8% were hair samples along with skin scrapings. Most common isolate was Trichophyton rubrum (40%) followed by Trichophyton mentagrophytes (17.3%), Trichophyton tonsurans (9.3%), Microsporum gypseum (4%) and no fungal growth was found in 17.3% of the samples. The study signies the importance of mycological examination in the diagnosis of dermatophytosis.

scholarly journals Prevalence and complications of Hypothyroidism during pregnancy in western Nepal

2014 ◽  
Vol 3 (1) ◽  
pp. 48-50 ◽  
Author(s):  
TL Upadhyaya ◽  
A KC ◽  
S Paudel
Keyword(s):  
Thyroid Function ◽  
Care Center ◽  
Tertiary Care ◽  
College Teaching ◽  
Thyroid Function Test ◽  
Overt Hypothyroidism ◽  
Medical College ◽  
Study Results ◽  
Function Test ◽  
Entire Pregnancy

Background: This study was designed to know the prevalence of hypothyroidism during pregnancy in western part of Nepal and its potential complications. Methods: One Hundred seven pregnant cases from Gandaki Medical college teaching hospital and Diabetes thyroid and Endocrinology care center, two of the tertiary care centers in Pokhara were enrolled in the study from the year 2011 January to 2012 December. Detailed history and physical examination was done. Thyroid Function test (FT3, FT4 andTSH) were performed after the confirmation of pregnancy. Patients were followed up during entire pregnancy. Seven patients dropped out from the study. Results: Out of 107 patients 56 patients had TSH below 6 mIU/L,31patients had TSH between 6mIU/L - 10 mIU/L and 13 patients had TSH more than 10 mIU/L. Seven patients dropped out from the study. There was1 miscarriage, 1 still birth from hypothyroid mother and 11 hypothyroid and subclinical hypothyroid mothers had preterm delivery. Conclusion: Prevalence of overt hypothyroidism is around 13% and subclinical hypothyroidism is around 31% in pregnant ladies in western Nepal. Also complications like stillbirth should be prevented by detecting and treating hypothyroidism early. So we recommend all patients with pregnancy to perform thyroid function test at the start of pregnancy. Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 48-50 DOI: http://dx.doi.org/10.3126/njms.v3i1.10358

scholarly journals ETIOLOGICAL PROFILE OF CHILDREN ADMITTED WITH FEVER WITHOUT FOCUS FOR LESS THAN 7 DAYS DURATION AT TERTIARY CARE CENTER

2021 ◽  
pp. 119-121
Author(s):  
RAJENDRA PRASAD NAGAR ◽  
TEENA NAGAR ◽  
MADHURIMA VERMA ◽  
RAKESH SHARMA
Keyword(s):  
Short Duration ◽  
Care Center ◽  
Tertiary Care ◽  
Febrile Illness ◽  
Control Measures ◽  
Care Hospital ◽  
Female Ratio ◽  
Medical College ◽  
Study Results ◽  
Common Etiology

Objective: The objective of the study was to know about the etiology of acute undifferentiated febrile illness (AUFI) or fever without focus in children admitted at tertiary care hospital. Methods: A study was conducted at medical college, Jhalawar, for a period of 3 months. Pediatric patients presenting with fever for less than or equal to 7 days duration without focus, who required hospitalization were included in this study. Results: A total of 200 children enrolled in study. Male-to-female ratio was 1.9:1. Mean age of children was 7.21±4.2 years. About 142 (71%) patients presented after 3 days of fever. Average duration of fever before admission was 4.62±1.78 days. The most common cause of fever of short duration (less than 7 days) was dengue fever 74 (37%) followed by malaria 58 (29%) and typhoid fever 36 (18%). About 26 (13%) patients had mixed infection. Out of 200 patients, 70 (35%) patients had splenomegaly, 66 (33%) had hepatomegaly, and 26 (13%) patients had both hepatosplenomegaly. Conclusion: The common etiology of AUFI with short duration in children was dengue, malaria, and typhoid. Vector control measures, drinking water supply, and sanitation should be improved to prevent vector-borne and water-borne diseases.

scholarly journals A Five-Year Retrospective Review of the Clinical Spectrum and Management Pattern of Dacryocystitis in a Tertiary Care Hospital of Coastal Karnataka

2021 ◽  
Vol 8 (16) ◽  
pp. 1035-1040
Author(s):  
Anagha Dinesh ◽  
Sheetal Savur
Keyword(s):  
Retrospective Review ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Clinical Spectrum ◽  
Care Hospital ◽  
Abnormal Finding ◽  
Female Ratio ◽  
Presenting Symptoms ◽  
Chronic Dacryocystitis ◽  
Study Results

BACKGROUND Dacryocystitis is the most common pathology affecting lacrimal drainage system, representing 79 - 87 % of all lesions. This retrospective study was conducted to understand the clinical spectrum and management patterns of dacryocystitis in the past 5 years in a tertiary care hospital of coastal Karnataka. METHODS This is a five-year retrospective review of the case records of patients with dacryocystitis from the year 2015 to 2019. The records were retrieved from the electronic medical record system of the hospital using the International Statistical Classification (ICD) 10 codes. Data retrieved included, demographic profile, clinical history, presenting symptoms, past surgical interventions, examination findings, systemic comorbidities, pattern of management, medical or surgical management and complications if any. 45 cases that had completed medical records were included in the study. RESULTS The mean age of presentation was 49.37 (± 19.59). The condition was more common in females with a male to female ratio of 1:2.5. The condition was almost equal on both sides. 11 (24.44 %) had bilateral involvement. The patients were mostly from coastal areas or dry plains. Most common presentation was chronic dacryocystitis. Aggravated epiphora was the most common symptom (33) 73.3 %. Diabetes mellitus (15) and hypertension (10) were the most common systemic comorbidities. (22) 48.8 % had no comorbidities. The complications seen were (4) 8.9 % fistula, (1) 2.2 % lacrimal abscess, (2) 4.4 % conjunctivitis and (1) 2.2 % preseptal cellulitis. The patients who underwent nasal examination were (31) 68.9 % out of which, 26 had no abnormal finding in the nose. Surgical treatment was performed in 29 (64.4 %) mainly in the form of dacryocystectomy (DCT) 24 (53.3 %) while only 5 (11.1 %) underwent conventional dacryocystorhinostomy (DCR). CONCLUSIONS Chronic dacryocystitis is the most common form of presentation with higher incidence in the females in the fifth decade of life. Epiphora was the commonest symptom. Most patients who underwent a preoperative nasal examination did not have any pathology. DCT was the more commonly performed procedure. KEYWORDS Acute Dacryocystitis, Chronic Dacryocystitis, Dacryocystectomy, Dacryocystorhinostomy, Epiphora

scholarly journals Oral pemphigus vulgaris: clinicopathological study of 35 cases at a tertiary care centre in North India

2017 ◽  
Vol 3 (2) ◽  
pp. 192
Author(s):  
Ameesha Mahajan ◽  
Jasleen Kaur ◽  
Mridu Manjari ◽  
Saurabh Sharma ◽  
Pooja Bains ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Tertiary Care ◽  
Pemphigus Vulgaris ◽  
Skin Lesions ◽  
Punch Biopsy ◽  
North India ◽  
Tertiary Care Centre ◽  
Present Specimen ◽  
Female Ratio ◽  
Oral Ulcers

<p class="abstract"><strong>Background:</strong> The purpose of the study was to evaluate the clinical and histopathological features of oral pemphigus vulgaris<span lang="EN-IN">.</span></p><p class="abstract"><strong>Methods:</strong> A prospective study of 35 cases of oral pemphigus vulgaris, over a period of 2.5 years from June 2014 to December 2016 in the Department of Dermatology, Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar was designed. Complete history and detailed mucocutaneous examination was done. Punch biopsy was performed from the oral mucosa and skin lesions (if present). Specimen was sent for histopathological examination and results analysed.<strong></strong></p><p class="abstract"><strong>Results:</strong> Out of 35 patients, 17 (48.57%) were males and 18 (51.42%) were females. Male to female ratio was 1:1.1. The majority of the patients (12, 34.29%) were in the 40-49 year age group. Multiple sites were involved in all patients with bilateral buccal mucosa being involved in all the cases, followed by tongue (30, 85.71%). Histopathological examination showed presence of suprabasal split and acantholytic cells in all cases<span lang="EN-IN">. </span></p><p class="abstract"><strong>Conclusions:</strong> <span>Oral ulcers are a presenting feature of pemphigus vulgaris which commonly precede the skin lesions. Histopathological examination enables early diagnosis of the disease which leads to prompt treatment and decreased morbidity</span><span lang="EN-IN">.</span></p>

Clinical & Laboratory Profile of Possible Sickle Delta Beta Thalassemia in Telangana State

2021 ◽  
Vol 8 (39) ◽  
pp. 3435-3440
Author(s):  
Mallikarjuna Shetty ◽  
Naval Chandra ◽  
Krishna Prasad Adiraju ◽  
Nageswara Rao Modugu ◽  
Sai Shivani Ranga ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Tertiary Care ◽  
Beta Thalassemia ◽  
Acute Chest Syndrome ◽  
Compound Heterozygous ◽  
Female Ratio ◽  
Hb S ◽  
Laboratory Profile ◽  
Telangana State ◽  
Moderate Anaemia

BACKGROUND Sickle delta beta thalassemia is a rare genetic disorder, with varied symptoms, signs, requiring careful monitoring for potential complications. It is due to sickle mutation and thalassemia mutation occurring together, with sparse data available worldwide. The purpose of this study was to assess the clinical and laboratory profile of possible sickle delta beta thalassemia. METHODS The study design is retrospective analysis of clinical information of those selected patients done in our multi-specialty tertiary care referral hospital situated in Telangana state in south India. The case material was collected from December 2017 to December 2019 (2 years duration). All haemoglobin electrophoresis reports were collected with no prior blood transfusions in preceding 4 months. The information collected was analysed and presented. RESULTS Total 9 patients were diagnosed as possible sickle delta beta thalassemia, with male to female ratio of 5 : 4 and age ranging from 12 years to 45 years of age. The commonest symptoms were joint pain and jaundice in 5 patients and sign was splenomegaly in 2 patients. Ultrasonogram of abdomen showed that 3 patients had gall stones, 1 patient had gall bladder sludge, 1 patient had autosplenectomy and 3 patients had splenomegaly. Mild to moderate anaemia was seen with reticulocytosis, sickling test positive in all patients, with haemoglobin in the range of 5.5 g/dl to 12.7 g/dl. 3 patients had iron over load, 2 patients had hepatopathy, 5 patients had unconjugated hyperbilirubinemia, Acute chest syndrome, hepatic necrosis, and nephropathy was seen in 1 patient each. Haemoglobin electrophoresis showed Hb S was from 46.1 % to 76.4, Hb A from 5.3 % to 34.7 %, Hb F from 4.8 % to 22.7 %, Hb A2 from 1.5 % to 3.3 %. 2 patients were treated with hydroxyurea. 2 patients had mutation analysis elsewhere that was reported as compound heterozygous for β-globulin gene for Hb S (GAG-GTG) and IVS 1 - 5 (G-C). CONCLUSIONS Sickle delta beta thalassemia presents as mild to moderate anaemia haemolysis, splenomegaly with vaso-occlusive crises. Hydroxyurea may help in the treatment. Genetic analysis helps in diagnosis and future therapies. KEYWORDS Haemoglobin S, Haemoglobin A2, Haemoglobin A, Haemoglobin F

Analysis of Short Stature in Children

2018 ◽  
Vol 3 (3) ◽  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Complete Blood Count ◽  
Tertiary Care ◽  
Normal Growth ◽  
Hormone Deficiency ◽  
Growth Data ◽  
Female Ratio ◽  
Pediatric Clinic ◽  
Detailed Medical History

Growth is a continuous biologic process influenced by genetic, nutritional, environmental, and hormonal factors. Normal growth can occur only if the individual is healthy. Longitudinal growth assessment is essential in child care. Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data. The objective of this study was to assess the characteristics of patients referred to pediatric clinic because of short stature and determination of the etiology in tertiary care hospitals of Southeast Asia. This is a retrospective study of patients referred to a pediatric clinic with short stature during the period March 2015 to March 2018. After a proper detailed medical history, growth analysis and physical examination, followed by a radiological (bone age) and laboratory screening (complete blood count, urine and stool analysis and also thyroid function). Growth hormone stimulation tests were performed when indicated. Magnetic resonance imaging (MRI) of the pituitary was performed if required. As well, celiac screening and small bowel biopsy were performed when appropriate. During the period, two hundred and thirty eight patients were evaluated for short stature. Their age ranged from 3 years to 12 years. The male to female ratio was 1.3:1. The commonest etiology was genetic short stature found in 32 patients, while in the remaining patients, nutritional, endocrine, metabolic and other causes were noted. Short stature was a common referral. A wide variety of etiological diagnosis was noticed with genetic short stature being the commonest. A wide variety of endocrine causes were evident, with growth hormone deficiency, as a results of different etiologies, being the commonest.

scholarly journals Postinfective Glomerulonephritis (PIGN) in Children Attending a Tertiary Care Centre in Nepal

2015 ◽  
Vol 34 (3) ◽  
pp. 221-224
Author(s):  
DR Poudel ◽  
S Basnet ◽  
FC Gami
Keyword(s):  
Clinical Features ◽  
Past History ◽  
Tertiary Care ◽  
Skin Lesions ◽  
University Teaching ◽  
Tertiary Care Centre ◽  
Female Ratio ◽  
Pedal Oedema ◽  
The Common ◽  
Pedal Edema

Introduction: Post infectious glomerulonephritis (PIGN) is one of the common paediatric kidney disease in developing countries. This study was undertaken to describe the common clinical features, biochemical findings and complications in children with PIGN. Materials and Methods: This was a retrospective descriptive study in which 30 patients admitted with a diagnosis of PIGN at Tribhuvan University Teaching Hospital (TUTH) in a six month period (July 2014 to Dec 2014) were included. Hospital medical records were reviewed for the data collection. Results: Out of 30 patients, 24 (80%) were between 5 to 15 years of age (mean age of 11.5±3.3) with male to female ratio of 2.3:1. Pedal oedema and hypertension were the clinical features seen in 29 (97%) and 28 (93%) patients respectively. Hypocomplementemia was found in 29 (97%) patients. Recent past history of sore throat seen in 10 (33%) patients and skin lesions in 12 (40%). The complications noted were congestive cardiac failure in 5 (17%) patients, rapidly proliferative glomerulonephritis in 3 (10%) and encephalopathy in 1(3%). Conclusion: The most important clinical and biochemical profile observed in nepalese children with PIGN are the hypertension, pedal edema and hypocomplementemia. J Nepal Paediatr Soc 2014;34(3):221-224 DOI: http://dx.doi.org/10.3126/jnps.v34i3.10707  

scholarly journals Pigmented Lesions of Skin: A Histopathologic Experience at a Tertiary Care Center in Central Nepal

2021 ◽  
Vol 17 (1) ◽  
pp. 1-9
Author(s):  
Binita Goyal ◽  
Suman Rai ◽  
Mamata Sedhain ◽  
Pratigya Subedi
Keyword(s):  
Cell Carcinoma ◽  
Malignant Tumors ◽  
Histopathological Examination ◽  
Care Center ◽  
Tertiary Care ◽  
Skin Lesions ◽  
Histopathological Diagnosis ◽  
Female Ratio ◽  
Pigmented Lesions ◽  
Pigmented Skin Lesions

Introduction Pigmented skin lesions refer to lesions that are brown, black or blue in color. These are not always melanocytic in origin. Keratinocytic, vascular or reactive pigmentation in other lesions can also appear pigmented. The main aim of the study was to see the histopathological spectrum and objective was to compare clinical and histopathological diagnoses in pigmented skin lesions. Methods This descriptive study was carried out on 43 pigmented skin lesions that were biopsied over a 1 and half year period from Jan 2018 to June 2019 in College of Medical Sciences and Teaching Hospital. Results Age of the patient ranged from 10 to 88 years and mean±SD was 42.02±19.73 years. There were 21 (48.8%) males and 22 (51.2%) females with a male female ratio 0.9:1. Melanocytic nevus was the most common histopathological diagnosis (11 cases, 25.6%). Reactive pigmentation was seen in 20 (46.5%) cases. Malignant cases comprised 6 (14.0%) cases which included 2 (4.7%) cases of melanoma, 2 (4.7%) cases of pigmented basal cell carcinoma and 1 (2.3%) case each of basaloid squamous cell carcinoma and trichoblastic carcinoma each. Clinicopathological agreement could be seen in 32 (74.4%) cases. However, malignancy was clinically suspected in only half of histologically diagnosed cases. Conclusions Melanocytic nevi were the most common pigmented lesions diagnosed. Not all pigmented lesions are melanocytic in origin. Malignant tumors can sometimes appear deceptively benign and also tumors other than melanoma can be pigmented. Hence, histopathological examination remains the gold standard in diagnosing these conditions and guiding appropriate management. Keywords: melanocytic; melanoma; nevus; pigmented.  

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