scholarly journals Heiner Syndrome: An uncommon cause of failure to thrive

2019 ◽  
Vol 31 (3) ◽  
pp. 227-229
Author(s):  
Ayotade B Ojuawo
Keyword(s):  
Young Child ◽  
Respiratory Symptoms ◽  
Delayed Diagnosis ◽  
Gastrointestinal Symptoms ◽  
Milk Proteins ◽  
Failure To Thrive ◽  
Cow Milk ◽  
Specific Nature ◽  
Cause Of Failure ◽  
High Index Of Suspicion

Heiner syndrome (HS) is a rare hypersensitivity reaction of an infant or young child to cow milk proteins. It is a disease characterised by failure to thrive, respiratory symptoms like cough, dyspnoea, wheeze and rhinitis with accompanying chest infiltrates on chest radiograph; gastrointestinal symptoms like vomiting, diarrhoea; and anaemia. The non-specific nature of the disease can result in delayed diagnosis and treatment and central to the condition is hypersensitivity to cow milk proteins.Several cases have been reported worldwide but there has been no report of this condition in Africa.We highlight the case of a sixteen week old child seen in our facility with features typical of Heiner syndrome. Clinicians should have a high index of suspicion for this condition especially in children predominantly on infant formula

scholarly journals Adenotonsillar Hypertrophy as a Cause of Failure to Thrive

1990 ◽  
Vol 4 (8) ◽  
pp. 485-488
Author(s):  
Ann G Sheehan ◽  
R Brent Scott ◽  
Helen M Machida
Keyword(s):  
Respiratory Symptoms ◽  
Upper Airway ◽  
Failure To Thrive ◽  
Adenotonsillar Hypertrophy ◽  
Cause Of Failure ◽  
History Of ◽  
Laboratory Investigations ◽  
Upper Respiratory ◽  
Partial Upper Airway Obstruction ◽  
Upper Respiratory Symptoms

Two infant aged 11 and 15 months presented to the Gastroenterology Clinic at Alberta Children's Hospital because of failure to thrive. Clinical and laboratory investigations excluded any underlying abnormality of 1he gastrointestinal tract. Because of a history of obstructive upper respiratory symptoms, both were referred for ear, nose and throat evaluation, and both were found to have partial upper airway obstruction secondary to adenotonsillar hypertrophy. Subsequent adenotonsillectomy led to resolution of obstructive upper respiratory symptoms and dramatic increases in weight gain and growth. Adenotonsillar hypertrophy should be included among the potential causes of failure to thrive in infancy, especially if the child has a history of obstructive upper respiratory symptoms.

scholarly journals Clinico-Epidemiological Characteristics of Children with Cystic Fibrosis: A Tertiary Care Experience

2021 ◽  
Author(s):  
Probir Kumar Sarkar ◽  
Nabila Akand ◽  
Sarabon Tahura ◽  
Md Kamruzzaman ◽  
Johora Akter ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Pulmonary Hypertension ◽  
Respiratory Symptoms ◽  
Demographic Data ◽  
Pancreatic Insufficiency ◽  
Tertiary Care ◽  
Gastrointestinal Symptoms ◽  
Failure To Thrive ◽  
Digital Clubbing ◽  
Epidemiological Characteristics

Abstract Background: Cystic fibrosis (CF) is considered to be rare among individuals from Bangladesh. The objective of the study was to delineate the clinico-epidemiological characteristics of pediatric cystic fibrosis cases.Method: This observational study included pediatric patients (up to 14 years of age) with a clinical diagnosis of CF. Data were collected within the period from February 2021 and October 2021. Written informed consent was obtained from the accompanying parent. Clinical and epidemiological characteristics were analyzed on the basis of demographic data, medical history, laboratory tests, and outcome information. Data analysis was done with SPSS 26.Result: A total of 50 patients (66% male) with a mean age of 39.7 ±30.75 (SD) months were included. Twenty-eight patients (57.14%) had siblings with CF, and 41.67% of parents had a history of consanguineous marriage. The majority of them were stunted (86%) and underweight (86%), and half of them had wasting (54%). Median disease duration was 12 months (range: 2 – 72). Cough (100%) and purulent sputum (100%) were the predominant respiratory symptoms, while failure to thrive (98%) and bulky offensive stools (86%) were prime gastrointestinal symptoms. Among the signs, malnutrition (94%), short stature (72%), digital clubbing (64%), and bronchiectasis (40%) were most frequent. Pulmonary hypertension (48%, n=24) was the most common comorbidity identified in the study participants. In hospital, mortality was 16% (n=8). Digital clubbing, bronchiectasis, pancreatic insufficiency, and abnormal liver function tests were significantly higher in the patient who died.Conclusion: Children with cystic fibrosis most commonly present with undernutrition and respiratory symptoms. Failure to thrive was almost a global phenomenon. Pulmonary hypertension was the most common complication found in echocardiography.

scholarly journals Post translational modifications of milk proteins in geographically diverse goat breeds

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
P. K. Rout ◽  
M. Verma
Keyword(s):  
Protein Function ◽  
Whey Proteins ◽  
Milk Proteins ◽  
Goat Milk ◽  
Peptide Sequence ◽  
Cow Milk ◽  
Post Translational Modification ◽  
Post Translational Modifications ◽  
Functional Roles ◽  
Dpp Iv

AbstractGoat milk is a source of nutrition in difficult areas and has lesser allerginicity than cow milk. It is leading in the area for nutraceutical formulation and drug development using goat mammary gland as a bioreactor. Post translational modifications of a protein regulate protein function, biological activity, stabilization and interactions. The protein variants of goat milk from 10 breeds were studied for the post translational modifications by combining highly sensitive 2DE and Q-Exactive LC-MS/MS. Here we observed high levels of post translational modifications in 201 peptides of 120 goat milk proteins. The phosphosites observed for CSN2, CSN1S1, CSN1S2, CSN3 were 11P, 13P, 17P and 6P, respectively in 105 casein phosphopeptides. Whey proteins BLG and LALBA showed 19 and 4 phosphosites respectively. Post translational modification was observed in 45 low abundant non-casein milk proteins mainly associated with signal transduction, immune system, developmental biology and metabolism pathways. Pasp is reported for the first time in 47 sites. The rare conserved peptide sequence of (SSSEE) was observed in αS1 and αS2 casein. The functional roles of identified phosphopeptides included anti-microbial, DPP-IV inhibitory, anti-inflammatory and ACE inhibitory. This is first report from tropics, investigating post translational modifications in casein and non-casein goat milk proteins and studies their interactions.

Coeliac disease presenting atypically: A much wider spectrum

2021 ◽  
pp. 004947552199134
Author(s):  
Avinash Lomash ◽  
Abhinaya Venkatakrishnan ◽  
Meenakshi Bothra ◽  
Bhavna Dhingra ◽  
Praveen Kumar ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Gestational Age ◽  
Dermatitis Herpetiformis ◽  
Mode Of Delivery ◽  
Gastrointestinal Symptoms ◽  
Stunted Growth ◽  
Significant Difference ◽  
High Index Of Suspicion ◽  
Gestational Age At Birth ◽  
Age At Birth

Atypical coeliac disease in young children is frequently missed when it presents atypically as non-gastrointestinal presentations to different specialties. There was a greater delay (54 months) in establishing the diagnosis in those with atypical coeliac disease (p < 0.001). No difference was observed in the mode of delivery or duration of breast feeding, but significant difference was observed between gestational age at birth (p < 0.001). Most cases showed stunted growth and underweight. Irritability, anaemia, rickets, dermatitis herpetiformis, alopecia and intussusception were other common predictors of atypical coeliac disease. Because of a myriad spectrum of non-gastrointestinal symptoms, at any age with diverse presentation, a high index of suspicion is therefore required.

scholarly journals Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Friederike Wilbert ◽  
Sarah C. Grünert ◽  
Andrea Heinzmann ◽  
Sebastian F. N. Bode
Keyword(s):  
Cystic Fibrosis ◽  
Systemic Disease ◽  
Gastrointestinal Symptoms ◽  
Chloride Concentration ◽  
Failure To Thrive ◽  
Sweat Test ◽  
Upper Airways ◽  
Inborn Errors ◽  
Hepatic Involvement ◽  
Number Of Patients

Abstract Background Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hypoglycemia can occur in a significant number of patients, although hepatomegaly is uncommon. Case presentation A 28 months old boy was presented with recurrent upper airways infections, progressive lethargy and weight loss. Clinically hepatomegaly was the main presenting feature and hypoglycemia (minimum 1.4 mmol/l) was noted as were elevated transaminases. The patient did not produce enough sweat to analyze it. Infectious causes for hepatitis were excluded and a broad metabolic work-up initiated. A therapy with starch was initiated to control hypoglycemia. In further course loose stools were reported and pancreatic elastase was found to be reduced. A further sweat test yielded pathological chloride concentration and genetic testing confirmed the diagnosis of cystic fibrosis. Conclusions Cystic fibrosis is a systemic disease and less common presentations need to be considered. Even in the age of CF-newborn screening in many countries CF needs to be ruled out in typical and atypical clinical presentations and diagnostics need to be repeated if inconclusive.

Acquired tracheo-oesophageal fistula in a child with unrecognised tracheal foreign body

2021 ◽  
Vol 14 (4) ◽  
pp. e240947
Author(s):  
Kanokpan Ruangnapa ◽  
Wanaporn Anuntaseree ◽  
Kantara Saelim ◽  
Pharsai Prasertsan
Keyword(s):  
Foreign Body ◽  
Young Children ◽  
Respiratory Symptoms ◽  
Growth Failure ◽  
Late Diagnosis ◽  
Feeding Intolerance ◽  
Recurrent Pneumonia ◽  
High Index Of Suspicion ◽  
Careful Investigation

We report the case of a 6-month-old girl who presented with recurrent pneumonia and growth failure. After full examination, she was diagnosed with long-standing, unrecognised tracheal foreign body, which was then successfully removed. However, her chronic respiratory symptoms did not improve, and she also had feeding intolerance. The persistence of symptoms indicated a second bronchoscopy and finally an acquired tracheo-oesophageal fistula was diagnosed. This case emphasises the challenges in diagnosis of an inhaled foreign body in young children. Late diagnosis of this condition can cause significant morbidities. A high index of suspicion and careful investigation are very important to prevent long-term complications.

A hypertensive girl with failure to thrive accompanied by gastrointestinal symptoms: Answers

2021 ◽  
Author(s):  
Senay Zirhli Selcuk ◽  
Ahmet Taner Elmas ◽  
Ismail Okan Yildirim ◽  
Ahmet Sigirci ◽  
Betul Sozeri ◽  
...  
Keyword(s):  
Gastrointestinal Symptoms ◽  
Failure To Thrive

scholarly journals Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

Nutrients ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 156 ◽  
Author(s):  
Mónica Villanueva ◽  
Amaya Oyarzún ◽  
Bárbara Leyton ◽  
Mónica González ◽  
Elizabeth Navarro ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Nutritional Status ◽  
Gastrointestinal Symptoms ◽  
Failure To Thrive ◽  
Age At Diagnosis ◽  
Pediatric Hospitals ◽  
Geographical Variations ◽  
Number Of Patients ◽  
Antiendomysial Antibodies

The frequency of celiac disease (CD) has increased along time, with relevant changes reported in geographical variations, clinical presentation and nutritional repercussions. In recent years, some celiac patients are presenting overweight/obesity, but it is unclear how frequent this is and to what extent undernutrition remains a concern. This is relevant because CD tends to be overlooked in overweight patients. With this in mind, we assessed age at diagnosis, clinical characteristics and nutritional status of 155 celiac patients diagnosed between 1994–2017 in four pediatric hospitals in Santiago, Chile. Since 2003, the number of patients diagnosed has increased (p < 0.0033), coinciding with antitransglutaminase and antiendomysial antibodies becoming available to public health systems. In 2000, 4.5% of patients were asymptomatic at diagnosis, suggesting that active search is not routinely applied. Gastrointestinal symptoms plus failure to thrive were significantly more frequent under 2 years (p = 0.0001). Nutritional status has improved at diagnosis and during follow up, but undernutrition remains more frequent in children <2 and <5 years (p < 0.002 and p < 0.0036, respectively). Overweight at diagnosis was reported in 2002 and obesity in 2010. After initiating treatment, since 2010, patients changing from undernourishment to overweight has sometimes been observed after only 6 months on a gluten-free diet.

Profile and outcomes of critically ill children in a lower middle-income country

2017 ◽  
Vol 35 (1) ◽  
pp. 52-55 ◽  
Author(s):  
Muhammad Irfan Habib ◽  
Khalid Mehmood A Khan
Keyword(s):  
Critically Ill ◽  
Respiratory Symptoms ◽  
Gastrointestinal Symptoms ◽  
Middle Income Country ◽  
Income Country ◽  
Critically Ill Children ◽  
Age Group ◽  
Middle Income ◽  
Lower Middle Income Country ◽  
Level 1

ObjectiveTo determine the clinical profile and outcome of critically ill children presenting to a paediatric ED in a lower middle-income country.MethodsWe performed a retrospective analysis of children (<14 years) presenting to the ED of the National Institute of Child Health, Karachi, between January and December 2014 who were assigned to acuity 1 (requiring immediate life-saving interventions) according to the Emergency Severity Index. Data included demographic variables, presenting complaints, interventions and outcomes in the ED.ResultsThere were 172 162 visits during the year. Of these, 13 551 (8%) were level 1. 64% of level 1 patients were transported to the ED without ambulance service. Neonates (0–28 days) constituted 48% of level 1 children; their most frequent presenting complaints were respiratory symptoms, followed by fever and reluctance to feed. Above the neonatal age group, the most common presenting complaints were gastrointestinal symptoms (with signs of hypoperfusion), followed by seizures, reluctance to feed and respiratory symptoms. 64% of children of >28 days presenting were malnourished. Interventions included cardiopulmonary resuscitation, application of bubble continuous positive airway pressure and endotracheal intubation. Overall mortality was 13%; 63% of all deaths were in the neonatal age group.ConclusionChildren with the highest triage acuity represent 8% of all visits to a paediatric ED. In this group, neonates account for nearly half of all the children, and more than half of all the deaths among critically ill children came in ED. A large proportion of high-acuity children are malnourished.

Granulomatosis with polyangiitis presenting as pancreatic disease

2021 ◽  
Vol 14 (3) ◽  
pp. e241033
Author(s):  
Jessie Jia Tao ◽  
Arnav Agarwal ◽  
Ari Benjamin Cuperfain ◽  
Christian Pagnoux
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Epigastric Pain ◽  
Delayed Diagnosis ◽  
Pancreatic Disease ◽  
Small Vessel Vasculitis ◽  
High Dose ◽  
Rapid Progression ◽  
Radiographic Evidence ◽  
High Index Of Suspicion ◽  
Parenchymal Lung

Granulomatosis with polyangiitis (GPA) is a rare necrotising small vessel vasculitis typically associated with oronasal, pulmonary and renal manifestations. Pancreatic disease is an exceedingly rare initial presentation and is associated with delayed diagnosis and rapid progression. We discuss a 66-year-old woman presenting with epigastric pain, elevated lipase and radiographic evidence of focal pancreatitis. She had no relevant medical history and no lithiasis seen on imaging. Pertinent findings include strawberry gingivitis, positive proteinase-antineutrophil cytoplasm antibody (98% specificity) and focal nodular parenchymal lung lesions on CT chest—all of which are consistent with a diagnosis of GPA. She was promptly started on high-dose steroids which resulted in significant clinical and biochemical improvement. Cyclophosphamide was added once biopsy confirmed the absence of malignancy. In order to optimise the clinical outcomes of GPA, physicians must keep a wide differential and high index of suspicion in the setting of unexplained pancreatitis with systemic features.

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