- Gastrointestinal pathophysiology and nutrition in cystic fibrosis. [Journal Article]
- ERExpert Rev Gastroenterol Hepatol 2018 Jul 18
- Cystic fibrosis (CF) is a severe, progressive, multi-systemic disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Optimizing nutrition is criti...
Cystic fibrosis (CF) is a severe, progressive, multi-systemic disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Optimizing nutrition is critical, as higher growth parameters are associated with better pulmonary function and outcomes, but unfortunately patients with this disease are prone to malnutrition, growth failure, and vitamin deficiencies. The purpose of this review is to provide a timely highlight of the physiologic processes and outcome data to support today's management strategies, as well as review these principles themselves. Areas covered: This review covers the background of the importance of vigilant attention to nutrition and growth in these patients, the underlying physiology leading to an abnormal gastrointestinal tract and its role in CF malnutrition, and current evaluation and management strategies to address nutrition in CF. Analysis of up-to-date, relevant literature was performed using PubMed. Expert commentary: Advances in research and clinical developments over the years have improved knowledge of this disease as well as patient outcomes. Of particular importance is optimizing nutrition especially in the early stages of life, as well as accounting for the markedly abnormal CF intestinal milieu when addressing the gastrointestinal and nutritional needs of these patients.
- No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency. [Journal Article]
- FIFront Immunol 2018; 9:1506
- Immunoglobulin class-switch recombination (CSR) and somatic hypermutations (SHMs) are prerequisites for antibody and immunoglobulin receptor maturation and adaptive immune diversity. The mismatch rep...
Immunoglobulin class-switch recombination (CSR) and somatic hypermutations (SHMs) are prerequisites for antibody and immunoglobulin receptor maturation and adaptive immune diversity. The mismatch repair (MMR) machinery, consisting of homologs of MutSα, MutLα, and MutSβ (MSH2/MSH6, MLH1/PMS2, and MSH2/MSH3, respectively) and other proteins, is involved in CSR, primarily acting as a backup for nonhomologous end-joining repair of activation-induced cytidine deaminase-induced DNA mismatches and, furthermore, in addition to error-prone polymerases, in the repair of SHM-induced DNA breaks. A varying degree of antibody formation defect, from IgA or selective IgG subclass deficiency to common variable immunodeficiency and hyper-IgM syndrome, has been detected in a small number of patients with constitutional mismatch repair deficiency (CMMRD) due to biallelic loss-of-function mutations in one of the MMR genes (PMS2, MSH6, MLH1, or MSH2). To elucidate the clinical relevance of a presumed primary immunodeficiency (PID) in CMMRD, we systematically collected clinical history and laboratory data of a cohort of 15 consecutive, unrelated patients (10 not previously reported) with homozygous/compound heterozygous mutations in PMS2 (n = 8), MSH6 (n = 5), and MLH1 (n = 2), most of whom manifested with typical malignancies during childhood. Detailed descriptions of their genotypes, phenotypes, and family histories are provided. Importantly, none of the patients showed any clinical warning signs of PID (infections, immune dysregulation, inflammation, failure to thrive, etc.). Furthermore, we could not detect uniform or specific patterns of laboratory abnormalities. The concentration of IgM was increased in 3 out of 12, reduced in 3 out of 12, and normal in 6 out of 12 patients, while concentrations of IgG and IgG subclasses, except IgG4, and of IgA, and specific antibody formation were normal in most. Class-switched B memory cells were reduced in 5 out of 12 patients, and in 9 out of 12 also the CD38hiIgM- plasmablasts were reduced. Furthermore, results of next generation sequencing-based analyses of antigen-selected B-cell receptor rearrangements showed a significantly reduced frequency of SHM and an increased number of rearranged immunoglobulin heavy chain (IGH) transcripts that use IGHG3, IGHG1, and IGHA1 subclasses. T cell subsets and receptor repertoires were unaffected. Together, neither clinical nor routine immunological laboratory parameters were consistently suggestive of PID in these CMMRD patients, but previously shown abnormalities in SHM and rearranged heavy chain transcripts were confirmed.
- Diagnosis and treatment of gastric antral webs in pediatric patients. [Journal Article]
- SESurg Endosc 2018 Jul 13
- CONCLUSIONS: Gastric antral webs should be considered in the differential diagnosis for a child with persistent vomiting. Web resection with the use of intraoperative endoscopic localization can result in permanent symptom resolution in the majority of these patients.
- CE: Original Research: Pain in Nonverbal Children with Medical Complexity: A Two-Year Retrospective Study. [Journal Article]
- AJAm J Nurs 2018 Jul 12
- CONCLUSIONS: The discharge diagnoses covered a wide range. A systematic approach to pain evaluation could help to ensure that the diagnostic process is both thorough and efficient. Common childhood ailments such as constipation or urinary tract infection, as well as other causes, must be considered when diagnosing pain in this population. Practice implications include consulting parents regarding changes in a child's behavior.
- Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive. [Review]
- HHormones (Athens) 2018 Jul 11
- The first and rate-limited step of steroidogenesis in all steroidogenic tissues is the conversion of cholesterol to pregnenolone, catalysed by P450scc side-chain cleavage enzyme (CYP11A1 gene-SCC). S...
The first and rate-limited step of steroidogenesis in all steroidogenic tissues is the conversion of cholesterol to pregnenolone, catalysed by P450scc side-chain cleavage enzyme (CYP11A1 gene-SCC). SCC deficiency has been characterised as an autosomal recessive disorder, although it may also be inherited as an autosomal dominant trait in humans. Here, we describe a family of three members carrying the same novel heterozygous CYP11A1 mutation, a c.235G > A missense variant in exon 1: pVal79Ile. A 46 XY boy (P1) was presented at the age of 3 months with early onset adrenal insufficiency and life-threatening failure to thrive, with low adrenal androgens but normal external genitalia. Five years later, the parents had twin girls, one of whom (P2) presented acute adrenal crisis a few hours after birth. The father (P3), born at term, was reported as having suffered from failure to thrive during the neonatal period, though not his only male sibling. This report of severe early adrenal insufficiency caused by a heterozygous mutation of the CYP11A1 gene clearly demonstrates that SCC deficiency may be inherited as an autosomal dominant trait in humans.
- A case of diencephalic syndrome presenting with isolated lipodystrophy. [Journal Article]
- CDClin Dysmorphol 2018 Jul 09
- Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagno...
Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy and failure to thrive. A broad range of genetic differential diagnoses were considered and investigated before a mass lesion was identified in the hypothalamus, confirming diencephalic syndrome. In the context of this case, we consider the relevant differentials and appropriate workup of a child with lipodystrophy presenting to a genetics service. This report also highlights the importance of considering diencephalic syndrome in cases such as this.
- Type II aortopulmonary window with tetralogy of Fallot: successful repair. [Journal Article]
- ACAsian Cardiovasc Thorac Ann 2018 Jan 01; :218492318788166
- Aortopulmonary window associated with tetralogy of Fallot is a rare cardiac anomaly. An 8-month-old boy presented with failure to thrive and recurrent chest infections. Echocardiography and imaging s...
Aortopulmonary window associated with tetralogy of Fallot is a rare cardiac anomaly. An 8-month-old boy presented with failure to thrive and recurrent chest infections. Echocardiography and imaging studies revealed a type II aortopulmonary window with tetralogy of Fallot. Corrective surgery in the form of patch closure of the aortopulmonary window and intracardiac repair of tetralogy of Fallot was carried out successfully.
- A Saudi Infant with Vici Syndrome: Case Report and Literature Review. [Journal Article]
- OAOpen Access Maced J Med Sci 2018 Jun 20; 6(6):1081-1084
- CONCLUSIONS: The symptoms of extensive system involvement in Vici syndrome have been present in the majority of reported cases and should prompt careful evaluation of this syndrome when such symptoms are present in an infant. In confirmed cases, close monitoring of the immune status and cardiac function, the two main causes of death among Vici syndrome patients, is vital to prevent rapid deterioration and improve life expectancy.
- Allergic components of eosinophilic esophagitis. [Review]
- JAJ Allergy Clin Immunol 2018; 142(1):1-8
- Eosinophilic esophagitis (EoE) is a disorder of increasing prevalence worldwide, causing clinical symptoms of vomiting, failure to thrive, and dysphagia and complications of esophageal remodeling wit...
Eosinophilic esophagitis (EoE) is a disorder of increasing prevalence worldwide, causing clinical symptoms of vomiting, failure to thrive, and dysphagia and complications of esophageal remodeling with strictures and food impactions. Molecular profiling demonstrates EoE to be an eosinophil-predominant disorder with a TH2 cytokine profile reminiscent of other allergic diseases, such as asthma, allergic rhinitis, and atopic dermatitis. Environmental antigens in the form of foods and aeroallergens induce eosinophil, basophil, mast cell, and T-cell infiltration. Pathogenesis depends on local epithelial immune activation with production of thymic stromal lymphopoietin and eotaxin-3. Complications mirror asthmatic airway pathogenesis, with increases in subepithelial collagen deposition, angiogenesis, and smooth muscle hypertrophy. The removal of instigating antigens, especially foods, causes disease resolution in more than 50% of adults and children. The prevalence of concurrent atopic disorders in patients with EoE and the need to control antigen-specific TH2 inflammation underscore the importance of testing for allergens and treating the entire atopic subject to control the potential interplay between organ-specific allergic responses.
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- Laparoscopic Excision of an Obstructing Soave Cuff in Hirschsprung's Disease. [Journal Article]
- JLJ Laparoendosc Adv Surg Tech A 2018; 28(7):894-898
- CONCLUSIONS: In patients with an obstructing Soave cuff, a laparoscopic excision should be considered as a surgical option. We found that the procedure can be effective, with little morbidity.