scholarly journals A Rare Case of Resistant Pigmentation

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A105-A106
Author(s):  
Kaushal Vinaykumar Sheth
Keyword(s):  
Respiratory Infections ◽  
Redox Homeostasis ◽  
Failure To Thrive ◽  
Serum Cortisol ◽  
High Plasma ◽  
Salt Wasting ◽  
Autoimmune Polyendocrine Syndrome ◽  
History Of ◽  
Glucocorticoid Deficiency ◽  
Serum Acth

Abstract Introduction: Familial glucocorticoid deficiency (FGD) is characterised by ACTH resistance & isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol & high plasma ACTH. Patients present with hyperpigmentation (due to stimulation of MC1R by POMC products) & hypoglycemia. Clinical presentation includes failure to thrive & susceptibility to infections. Case Report: A 14 year old girl presented to us with generalised hyperpigmentation of the skin and oral mucosa- it started when she was 4 years of age. There was history of recurrent respiratory infections around the same time the hyperpigmentation appeared - the patient required multiple hospitalisations for the same (she was admitted 3 times in 6 months). Her random serum cortisol was measured – it came out to be 8.27nmol/L. Her serum Na+ was 140 mEq/L & K+ was 3.5 mEq/L. She was also diagnosed with subclinical hypothyroidism at that time (TSH- 7.3 mIU/L, anti TPO antibodies positive). There was no history of alacrimia or achalasia. Her 17-OHP was 2.20 nmol/L. A probable diagnosis of autoimmune polyendocrine syndrome was made & oral hydrocortisone (@ 12 mg/m2) & levothyroxine (@25 mcg) was started. The patient was compliant with the treatment, but the mother complained that her hyperpigmentation improved only by 20–30 % despite continued treatment. There was no history of salt wasting crises or hospitalisations after the initiation of treatment. Her serum ACTH values were checked 2 times (2011 & 2015) and were > 2000 pg/ml on both the occasions. The hydrocortisone dose was increased to 20mg/m2 for 1 year in between, without any improvement in hyperpigmentation. Patient presented to us with persistent hyperpigmentation in 2019. She was a product of consanguineous marriage. Non-compliance was ruled out. She had attained menarche at the age of 12 years. There was history of delayed pubarche (started @ age of 13 years) & axillary hair was absent. Again, her serum ACTH was > 2000 pg/ml and electrolytes and BP were normal. In view of normal electrolytes with low cortisol at the time of diagnosis & persistent hyperpigmentation even on supraphysiological doses of hydrocortisone, Familial Glucocorticoid Deficiency was considered. Genetic analysis showed mutation in Thioredoxin Reductase (TXNRD2) Gene. This gene mutation has recently been reported in FGD. (Prasad R et al, JCEM Aug 2014.) Conclusion: In cases of primary adrenal insufficiency with normal electrolytes & resistant hyperpigmentation, familial glucocorticoid deficiency should be thought of. Treatment with standard glucocorticoid therapy should be given. Serum ACTH values should not be chased. The hyperpigmentation may not resolve completely. TXNRD2 deficiency leads to impaired redox homeostasis, highlights the important redox pathway in addition to defective ACTH signaling, giving us new insights in regard to steroidogenesis.

scholarly journals Severe pneumonia leading to death in an achondroplasic infant: a rare case report

2018 ◽  
Vol 5 (2) ◽  
pp. 681
Author(s):  
Mankiran K. Matharoo ◽  
Gursharn S. Narang
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Respiratory Infections ◽  
Cardiopulmonary Arrest ◽  
Multiorgan Failure ◽  
Failure To Thrive ◽  
Severe Pneumonia ◽  
Severe Respiratory Distress ◽  
Rare Case Report ◽  
History Of

This report concerns a 9-month-old male with achondroplasia presenting with severe respiratory distress having history of frequent respiratory infections, developmental delay and failure to thrive. Child had septicemia and ended up in multiorgan failure, ultimately leading to death due to cardiopulmonary arrest.

PERAN IBU DALAM PENINGKATAN SISTEM IMUN ANAK DENGAN INFEKSI SALURAN PERNAFASAN AKUT

2019 ◽  
Vol 11 (2) ◽  
pp. 79-86
Author(s):  
Cindy Ayustin Noya ◽  
Angkit Kinasih ◽  
Venti Agustina ◽  
R.Rr Maria Dyah Kurniasari
Keyword(s):  
Immune System ◽  
Acute Respiratory Infection ◽  
Lower Respiratory Tract ◽  
Research Method ◽  
Respiratory Infections ◽  
Acute Respiratory Infections ◽  
Clean Environment ◽  
History Of ◽  
Qualitative Descriptive

Infeksi saluran pernafasan akut atau yang sering disebut ISPA merupakan infeksi pada saluran pernafasan baik saluran pernafasan atas atau bawah.ISPA juga kebanyakan terjadi pada anak balita karena daya tahan tubuh mereka tidak kuat dalam menghadapi penyakit ISPA. ISPA mengakibatkan kematiansekitar15%-20% per tahun pada usia balita di Negara berkembang. Tujuan penelitian ini adalah untuk mengetahui dan menganalisa peran ibu dalam meningkatkan sistem imun anak dengan ISPA.Metode penelitian yang digunakan dalam penelitian ini adalah kualitatif deskriptif dengan sampel purposive sampling.Populasi dan sampel penelitian ini adalah ibu yang mempunyai anak dengan riwayat dan saat ini menderita penyakit ISPA di Batu Gajah Kota Ambon.Partisipan dalam penelitian ini berjumlah 5 orang. Hasil dari penelitian mendapati 4 kategori yaitu pemberian nutrisi pada anak untuk memenuhi kebutuhan agar sistem imunnya terjaga, kebersihan lingkungan, peran ibu dalam melakukan pencegahan pada anaknya yang mengalami ISPA, dan  peran ibu dalam menjaga dan mempertahankan kesehatan anaknya.   Kata kunci: peran ibu, sistem imun, ispa THE ROLE OF MOTHERS IN INCREASING IMMUNE SYSTEM OF CHILDREN WITH ACUTE RESPIRATORY INFECTION    ABSTRACT Acute respiratory infections or often called ARI is an infection of the upper or lower respiratory tract. ARI occurs mostly in children under the age of five because their endurance is not strong in dealing with ARI. ARI results in deaths of around 15%-20% per year at the age of under-five in developing countries. The purpose of this study was to determine and analyze the role of mothers in improving the immune system of children against ARI. The research method used in this study was qualitative descriptive with a purposive sampling sample. Respondents and samples of this study were five mothers who had children with a history of ARI and currently suffering from the disease in Batu Gajah, Ambon City. The results of the study found 4 categories, namely providing nutrition to children to meet their needs so that their immune systems are maintained, clean environment, mother's role in preventing children with ARI, and mother's role to preserve and maintain the health of their children. The findings indicated that in terms of coping or improving the immune system of a child to avoid ARI, it is necessary to have role the of mothers in providing nutrition so that the immune system is boosted, besides that the mother can prevent and protect her child from various diseases, especially ARI. Keywords: role of mothers, immune system, acute respiratory infections

Device Closure of Ventricular Septal Defect with Amplatzer Muscular Occluder: A Case Report

1970 ◽  
Vol 25 (3) ◽  
pp. 161-163
Author(s):  
Nurun Nahar Fatema ◽  
Mamunur Rahman ◽  
Mujubul Haque
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Failure To Thrive ◽  
Military Hospital ◽  
Device Closure ◽  
Residual Shunt ◽  
Muscular Ventricular Septal Defect ◽  
Cardiac Centre ◽  
History Of ◽  
Observation Period

A four year old girl was diagnosed as a case of mid muscular Ventricular Septal Defect (VSD) since early infancy. She had history of failure to thrive (FTT) and recurrent chest infection or pneumonia. As her pulmonary artery pressure was almost normal she was planned for device closure on elective basis once device and technology would be available in cardiac centre of combined Military Hospital (CMH) Dhaka. Finally it was done on 21st August 2005 and patient was discharged after 72 hours observation period. Echocardiography on next morning showed complete occlusion of defect with no residual shunt. (J Bangladesh Coll Phys Surg 2007; 25 : 161-163)

scholarly journals Gas-filled urachal abscess with a pinging sound in a heifer calf

2019 ◽  
Vol 64 (No. 8) ◽  
pp. 362-366 ◽  
Author(s):  
R Sato ◽  
K Yamada ◽  
Y Shinozuka ◽  
H Ochiai ◽  
K Onda
Keyword(s):  
Fistulous Tract ◽  
Failure To Thrive ◽  
Abdominal Distension ◽  
Intravenous Urography ◽  
University Hospital ◽  
Growth Depression ◽  
Poor Growth ◽  
History Of ◽  
Heifer Calf ◽  
Urachal Abscess

A 6-month-old crossbred of a Holstein and Japanese Black heifer calf weighing 95 kg presented with a history of intermittent abdominal distension and failure to thrive. The physical examination identified a pinging sound over the dorsal left flank. The abdominal radiography showed a huge gas-filled mass. The intravenous urography revealed no communication between the mass and the urinary bladder. Although the visual examination and palpation of the umbilicus did not reveal visible abnormalities, an umbilical disease was suspected because the animal exhibited poor growth, depression, and a hunched back posture. When the eschar adhering to the centre of the umbilicus was removed, the presence of a fistulous tract was revealed. The umbilical ultrasound examination revealed an intra-abdominal abscess and the fistulography demonstrated that the abscess communicated with the umbilicus. The abscess, compressing into the rumen, was observed by computed tomography. From these images, it was diagnosed as an umbilical cord remnant abscess and a definitive diagnosis of a urachal abscess was obtained by open abdominal surgery and the subsequent removal of the mass. The calf was discharged from the university hospital on day 14 after the operation. This case shows that a urachal abscess should be considered when a pinging sound is present, even if the animal exhibits no swelling or pain of the umbilicus.

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency

2020 ◽  
Vol 106 (1) ◽  
pp. e182-e191
Author(s):  
Christina Merakou ◽  
Irene Fylaktou ◽  
Amalia Sertedaki ◽  
Maria Dracopoulou ◽  
Antonis Voutetakis ◽  
...  
Keyword(s):  
Gene Sequencing ◽  
Failure To Thrive ◽  
In Silico Analysis ◽  
Autosomal Recessive Disorder ◽  
Molecular Study ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
Pathogenic Variants ◽  
Novel Variants ◽  
Aldosterone Synthase Deficiency

Abstract Context Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting, and failure to thrive. The main causes of this rare autosomal recessive disorder is pathogenic variants of the CYP11B2 gene leading to aldosterone synthase deficiency. Objective To investigate the presence of CYP11B2 pathogenic variants in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of aldosterone synthase deficiency. Design Clinical and molecular study. Setting Tertiary academic Children’s Hospital, Center for Rare Pediatric Endocrine Diseases. Patients and Methods Sixty-two patients (56 unrelated patients and 6 siblings), with hypoaldosteronism and their parents, underwent CYP11B2 gene sequencing after its selective amplification against the highly homologous CYP11B1 gene. In silico analysis of the identified novel variants was carried out to evaluate protein stability and potential pathogenicity. Results CYP11B2 gene sequencing revealed that 62 patients carried a total of 12 different pathogenic CYP11B2 gene variants, 6 of which are novel. Importantly, 96% of the 56 patients carried the previously reported p.T185I variant either in homozygosity or in compound heterozygosity with another variant. The 6 novel variants detected were: p.M1I, p.V129M, p.R141Q, p.A165T, p.R448C, and the donor splice site variant of intron 8, c.1398 + 1G > A. Conclusion Molecular diagnosis was achieved in 62 patients with aldosterone synthase deficiency, the largest cohort thus far reported. Six novel genetic variants were identified as possibly pathogenic, extending the spectrum of reported molecular defects of the CYP11B2 gene.

scholarly journals Severe Posaconazole-Induced Glucocorticoid Deficiency with Concurrent Pseudohyperaldosteronism: An Unfortunate Two-for-One Special

2021 ◽  
Vol 7 (8) ◽  
pp. 620
Author(s):  
Alejandro Villar-Prados ◽  
Julia J. Chang ◽  
David A. Stevens ◽  
Gary K. Schoolnik ◽  
Samantha X. Y. Wang
Keyword(s):  
Mechanism Of Action ◽  
Antifungal Agents ◽  
Laboratory Findings ◽  
Steroid Synthesis ◽  
Adrenal Steroid ◽  
History Of ◽  
Glucocorticoid Deficiency

A 56-year-old Hispanic man with a history of disseminated coccidioidomycosis was diagnosed with persistent glucocorticoid insufficiency and pseudohyperaldosteronism secondary to posaconazole toxicity. This case was notable for unexpected laboratory findings of both pseudohyperaldosteronism and severe glucocorticoid deficiency due to posaconazole’s mechanism of action on the adrenal steroid synthesis pathway. Transitioning to fluconazole and starting hydrocortisone resolved the hypokalemia but not his glucocorticoid deficiency. This case highlights the importance of recognizing iatrogenic glucocorticoid deficiency with azole antifungal agents and potential long term sequalae.

SUDDEN AND UNEXPECTED DEATH IN INFANCY AND CHILDHOOD

PEDIATRICS ◽  
1956 ◽  
Vol 17 (5) ◽  
pp. 663-699 ◽  
Author(s):  
Lester Adelson ◽  
Eleanor Roberts Kinney
Keyword(s):  
Sudden Death ◽  
Respiratory Tract ◽  
Pulmonary Edema ◽  
Cause Of Death ◽  
Respiratory Infections ◽  
Past History ◽  
Prognostic Significance ◽  
Control Group ◽  
Unexpected Death ◽  
History Of

One hundred twenty-six consecutive cases of sudden and unexpected death in children between the ages of 10 days and 2 years were studied. Anatomic and microbiologic studies were carried out and an investigation was made at the home in each case. Both sexes were equally vulnerable. Eighty-five per cent of the children were less than 6 months old. The peak incidence was at 2 months. Ninety-nine children were found dead and 27 were observed to die. The same variety and severity of anatomic lesions were found in both categories. Sixteen children in the same age range who died rapidly following known lethal voilence were studied as a control group. Of the nontraumatic sudden death ("unexplained") series 106 (84 per cent) revealed microscopic inflammatory changes in 1 or more sites of the respiratory tract, and histologic evidence of inflammatory disease in other organs was seen in many cases. Acute hemorrhagic pulmonary edema was a common anatomic finding (82 per cent). It was usually accompanied by visceral and cerebral congestion and hemorrhages. Special investigative procedures including staining of the liver for glycogen, determination of the glucose level of the cerebrospinal fluid and study of the adrenals for sudanophilia and birefringence indicated that these factors are without significance in sudden death in early life. A variety of congenital and acquired abnormalities, the presence of which had been unsuspected, was demonstrated at necropsy. Eleven per cent of the 126 cases showed no anatomic abnormalities other than the circulatory phenomena. No single bacterial organism or group of organisms was isolated with any degree of consistency from any site. All attempts to isolate viruses were negative. Ante-mortem symptomatology, circumstances of death, history of contact with infectious disease, and past history of repeated respiratory infection were without prognostic significance and were not pathognomic as to the cause of death. Eighty children had histories of mild illness for 48 hours or less prior to death. Fifty-three children had received some form of treatment during this interval. Sixty-nine children had histories of contact with infectious diseases. Forty-one children had past histories of repeated respiratory infections. The cases came from every social level. Sixty-five per cent had received good care while 35 per cent had received poor care. Many of the control cases showed inflamatory disease in the respiratory tract similar to that seen in the natural death group as well as anatomic evidence of lethal trauma. The inflammatory lesions are thus not incompatible with life. Several hypotheses are offered in an effort to link microscopic inflammatory respiratory tract changes with hemorrhagic pulmonary edema and sudden death. Anatomic and anamnestic evidence exclude mechanical suffocation by bedding. No statement as to the cause of death of an infant who has died suddenly and unexpectedly should be made without complete gross and microscopic studies and thorough investigation of the scene and circumstances of death.

scholarly journals Spontaneous remission of hypercortisolism presumed due to asymptomatic tumor apoplexy in ACTH-producing pituitary macroadenoma

2013 ◽  
Vol 57 (6) ◽  
pp. 486-489 ◽  
Author(s):  
Marcio Carlos Machado ◽  
Patricia Sampaio Gadelha ◽  
Marcello Delano Bronstein ◽  
Maria Candida Barisson Vilares Fragoso
Keyword(s):  
Salivary Cortisol ◽  
Signs And Symptoms ◽  
Spontaneous Remission ◽  
Pituitary Surgery ◽  
Serum Cortisol ◽  
Urinary Free Cortisol ◽  
High Plasma ◽  
Imaging Data ◽  
Cystic Component ◽  
Free Cortisol

Cushing's disease (CD) is usually caused by secretion of ACTH by a pituitary corticotroph microadenoma. Nevertheless, 7%-20% of patients present with ACTH-secreting macroadenomas. Our aim is to report a 36-year-old female patient with CD due to solid-cystic ACTH-macroadenoma followed up during 34 months. The patient presented spontaneous remission due to presumed asymptomatic tumor apoplexy. She showed typical signs and symptoms of Cushing's syndrome (CS). Initial tests were consistent with ACTH-dependent CS: elevated urinary free cortisol, abnormal serum cortisol after low dose dexamethasone suppression test, and elevated midnight salivary cortisol, associated with high plasma ACTH levels. Pituitary magnetic resonance imaging (MRI) showed a sellar mass of 1.2 x 0.8 x 0.8 cm of diameter with supra-sellar extension leading to slight chiasmatic impingement, and showing hyperintensity on T2-weighted imaging, suggesting a cystic component. She had no visual impairment. After two months, while waiting for pituitary surgery, she presented spontaneous resolution of CS. Tests were consistent with remission of hypercortisolism: normal 24-h total urinary cortisol and normal midnight salivary cortisol. Pituitary MRI showed shrinkage of the tumor with disappearance of the chiasmatic compression. She has been free from the disease for 28 months (without hypercortisolism or hypopituitarism). The hormonal and imaging data suggested that silent apoplexy of pituitary tumor led to spontaneous remission of CS. However, recurrence of CS was described in cases following pituitary apoplexy. Therefore, careful long-term follow-up is required.

scholarly journals A 12-month follow-up of an influenza vaccination campaign based on voluntary adherence: report on upper-respiratory symptoms among volunteers and non-volunteers

2001 ◽  
Vol 119 (4) ◽  
pp. 142-145 ◽  
Author(s):  
Páris Ali Ramadan ◽  
Francisco Barreto de Araújo ◽  
Mario Ferreira Junior
Keyword(s):  
Respiratory Symptoms ◽  
Respiratory Infections ◽  
Vaccination Campaign ◽  
Influenza Like Illness ◽  
Upper Respiratory Infections ◽  
Medical Consultations ◽  
History Of ◽  
Upper Respiratory ◽  
Upper Respiratory Symptoms

CONTEXT: Routine immunization of groups at high risk for influenza has been progressively implemented as a matter of Brazilian public health policy. Although the benefits of the vaccination for healthy young adults are still controversial, it has been offered yearly to hundreds of thousands of Brazilian workers, generally as part of wellness initiatives in the workplace. OBJECTIVE: To study the characteristics of subjects that accepted or refused to be vaccinated against influenza and to report on respiratory symptoms in both groups, one year after the campaign date. DESIGN: A prospective observational study. SETTING: Workers at a subsidiary of an international bank in São Paulo, Brazil. PARTICIPANTS: 124 persons that did not accept and 145 that voluntarily accepted the vaccine completed 12 months of follow-up. MAIN MEASUREMENTS: Data concerning gender, age, tobacco use, and any history of chronic respiratory illness such as asthma, bronchitis, rhinitis, and repetitive upper-respiratory infections, were recorded at the time of vaccination. After that, workers were asked monthly by questionnaire or telephone about respiratory symptoms, days of work lost and medical consultations. RESULTS: The results showed statistically significant differences regarding age (P = 0.004) with the vaccinated group (V) being younger than the non-vaccinated (NV) one, and with reference to previous repetitive upper-respiratory infections being higher among the V group (P < 0.0001). During the follow-up, the V group reported more occurrences of upper respiratory symptoms (P < 0.0001), due to both non-influenza (P < 0.0001) and influenza-like illness (P = 0.045). Differences were also found between V and NV groups concerning days off work and number of medical consultations due to upper-respiratory symptoms and non-influenza illness. Gender and history of repetitive upper-respiratory infections were the best predictors of influenza-like illness-related events. CONCLUSIONS: The making of previous reference to repetitive upper-respiratory infections was a major difference between those who accepted or rejected the vaccine. The vaccination itself was not sufficient to reduce the number of occurrences of respiratory symptoms and related absenteeism to levels similar to those found among non-vaccinated people.

scholarly journals Clozapine Use Presenting with Pseudopheochromocytoma in a Schizophrenic Patient: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Jaskanwal Sara ◽  
Matt Jenkins ◽  
Tanveer Chohan ◽  
Karan Jolly ◽  
Lisa Shepherd ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Adrenal Glands ◽  
Serum Cortisol ◽  
Serum Levels ◽  
Urinary Free Cortisol ◽  
Free Cortisol ◽  
History Of ◽  
Caucasian Female ◽  
Abnormal Uptake ◽  
Noradrenaline Levels

Introduction. There have been six previous cases that reported pseudopheochromocytoma in patients taking clozapine. Our case showed the direct link of clozapine to serum levels of certain markers.Case. This is a case of a 49-year-old obese Caucasian female who was referred to endocrinology for investigation of Cushing’s syndrome, based on raised blood pressure and Cushingoid facies. The patient had underlying schizophrenia and was stable on clozapine. Her blood pressure was 150/99 mmHg on bendroflumethiazide and candesartan. We measured her 24-hour urinary-free cortisol, which was normal but 24-hour urinary-free noradrenaline was elevated at 835 nmol (76–561) with normal adrenaline 36 nmol (7–82) and dopamine 2679 nmol (366–2879), as the patient had history of palpitations and sweating. Two sets of 24-hour urinary-free cortisol measurements were normal and serum cortisol suppressed to <50 nmol/l after a 1 mg overnight dexamethasone. Two further 24-hour urinary-free catecholamines showed a raised level of noradrenaline. MRI demonstrated normal adrenals and MIBG scan did not show any abnormal uptake at adrenal glands.Conclusion. Pseudopheochromocytoma has been reported in patients taking clozapine. A number of different mechanisms for raised plasma noradrenaline levels with clozapine have been postulated. The above case highlights an unusual but known side effect of clozapine.

Sign in / Sign up

Export Citation Format

Share Document