- Etiology and prognosis of pediatric short bowel syndrome. [Journal Article]
- SPSemin Pediatr Surg 2018; 27(4):209-217
- Pediatric intestinal failure is a complex and devastating condition defined as the inability of the intestine to absorb an adequate amount of fluid and nutrients to sustain life. The primary goal of ...
Pediatric intestinal failure is a complex and devastating condition defined as the inability of the intestine to absorb an adequate amount of fluid and nutrients to sustain life. The primary goal of intestinal failure treatment is to achieve enteral autonomy with a customized treatment plan. Although recent improvements in intestinal failure patient care have led to significant improvements in the morbidity and mortality rate, children with intestinal failure are at risk for multiple complications such as intestinal failure associated liver disease, recurrent septic episodes, central line complications, metabolic bone disease, impaired kidney function, and failure to thrive. In this article, we review the current literature on the etiology and factors affecting prognosis of pediatric IF.
- External Stimulus Responsive Inorganic Nanomaterials for Cancer Theranostics. [Review]
- ADAdv Drug Deliv Rev 2018 Oct 12
- Cancer is a highly intelligent system of cells, that works together with the body to thrive and subsequently overwhelm the host in order for its survival. Therefore, treatment regimens should be equa...
Cancer is a highly intelligent system of cells, that works together with the body to thrive and subsequently overwhelm the host in order for its survival. Therefore, treatment regimens should be equally competent to outsmart these cells. Unfortunately, it is not the case with current therapeutic practices, the reason why it is still one of the most deadly adversaries and an imposing challenge to healthcare practitioners and researchers alike. With rapid nanotechnological interventions in the medical arena, the amalgamation of diagnostic and therapeutic functionalities into a single platform, theranostics provides a never before experienced hope of enhancing diagnostic accuracy and therapeutic efficiency. Additionally, the ability of these nanotheranostic agents to perform their actions on-demand, i.e. can be controlled by external stimulus such as light, magnetic field, sound waves and radiation has cemented their position as next generation anti-cancer candidates. Numerous reports exist of such stimuli-responsive theranostic nanomaterials against cancer, but few have broken through to clinical trials, let alone clinical practice. This review sheds light on the pros and cons of a few such theranostic nanomaterials, especially inorganic nanomaterials which do not require any additional chemical moieties to initiate the stimulus. The review will primarily focus on preclinical and clinical trial approved theranostic agents alone, describing their success or failure in the respective stages.
- Porphyria Attack Manifesting as Delayed Emergence and Precipitated by Prolonged Cardiopulmonary Bypass: A Case Report of 2 Novel Observations. [Journal Article]
- PA A Pract 2018 Oct 11
- Acute porphyria is a group of rare disorders in the biosynthesis pathway of heme that can result in severe neurovisceral attacks leading to morbidity and mortality. Perioperative complications have b...
Acute porphyria is a group of rare disorders in the biosynthesis pathway of heme that can result in severe neurovisceral attacks leading to morbidity and mortality. Perioperative complications have been largely prevented due to avoidance of precipitants and early treatment of symptoms. However, these measures may not always be successful, because not all physiological stressors can be evaded. This case illustrates a porphyria attack precipitated by prolonged cardiopulmonary bypass that manifested as postoperative delayed emergence, failure to wean from mechanical ventilation, autonomic insufficiency requiring significant vasoactive agents, and, ultimately, failure to thrive. The patient passed after withdrawal of care.
- Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center. [Journal Article]
- PPancreas 2018 Nov/Dec; 47(10):1344-1349
- CONCLUSIONS: Here we described 4 patients with infantile exocrine pancreatic insufficiency confirmed by laboratory tests and imaging. Whole-exome sequencing and Sanger sequencing showed that 2 patients had Johanson-Blizzard syndrome and 2 patients had Shwachman-Diamond syndrome. Genetic sequencing should be applied for definite diagnosis among these patients.
- Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders. [Review]
- ATAnn Transl Med 2018; 6(17):343
- Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently cle...
Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age. The present review is aimed to updating the discoveries regarding OSAS on Achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, Sickle cell disease, or encountered in our clinical practice (Ehlers-Danlos syndrome, Ellis-van Creveld syndrome, Noonan syndrome). Two additional groups of genetic disorders will be focused (mucopolysaccharidoses and osteogenesis imperfecta). The flowing items are covered for each disease: (I) what is the pathophysiology of OSAS? (II) What is the incidence/prevalence of OSAS? (III) What result from the management and prognosis? (IV) What are the recommendations? Considering the worries of OSAS, such as inattention and behavioural problems, daytime sleepiness, failure to thrive, cardiological and metabolic complications, the benefit of a widespread screening and the treatment in children with genetic diseases is undoubtful. The goals of the further efforts can be the inclusion of various genetic diseases into guidelines for the screening of OSAS, updating the shreds of evidence based on the research progression.
- MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. [Journal Article]
- CGClin Genet 2018 Oct 09
- MPV17 encodes a putative channel-forming protein of the inner mitochondrial membrane and is involved in mitochondrial deoxynucleotide homeostasis. MPV17 mutations were first reported in patients with...
MPV17 encodes a putative channel-forming protein of the inner mitochondrial membrane and is involved in mitochondrial deoxynucleotide homeostasis. MPV17 mutations were first reported in patients with Navajo neurohepatopathy, an autosomal recessive mitochondrial DNA depletion syndrome, characterized by early-onset liver failure, failure to thrive as well as central and peripheral neurological involvement. Recently, two patients with juvenile-onset peripheral sensorimotor neuropathy associated with an MVP17 c.122G>A (p.Arg41Gln) variant have been reported. Here, we describe five additional patients from two unrelated families with sensorimotor axonal neuropathy without hepatocerebral affection caused by homozygous MPV17 variants. Patients of the first family carried the known c.122G>A variant and affected individuals of the second family had a novel c.376-9T>G near-splice variant, which was shown to result in an in-frame deletion of 11 amino acids. This report provides further evidence that MPV17 mutations should be considered in patients with pure, non-syndromic axonal neuropathy. This article is protected by copyright. All rights reserved.
- Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases. [Journal Article]
- CMCurr Med Res Opin 2018 Oct 08; :1-22
- Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage asso...
Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. insulin resistance, dyslipidemia, fatty liver and diabetes, and to provide appropriate genetic counselling. By means of several representative case studies, this article illustrates the diagnostic and management challenges of lipodystrophic syndromes. Berardinelli-Seip congenital lipodystrophy (BSCL) is typically diagnosed at birth, or soon thereafter, with generalized lipoatrophy and hepatomegaly secondary to hepatic steatosis. Physicians must also consider this diagnosis in adults with atypical non-autoimmune diabetes, hypertriglyceridemia and a lean and muscular phenotype. The BSCL1 subtype due to mutations in the AGPAT2 gene can have an unusual presentation, especially in neonates and infants. Particular attention should be paid to infants presenting failure to thrive who also have hepatomegaly and metabolic derangements. The BSCL2 subtype due to mutations in the BSCL gene tends to be more severe than BSCL1, and is characterized by greater fat loss, mild intellectual disability, earlier onset of diabetes, and higher incidence of premature death. Effective management from an earlier age may moderate the natural disease course. Partial lipodystrophies may easily be confused with common central obesity and/or metabolic syndrome. In patients with unexplained pancreatitis and hypertriglyceridemia, lipodystrophies such as familial partial lipodystrophy type 2 (FPLD2; Dunnigan type, due to LMNA mutations) should be considered. Oral combined contraceptives, which can reveal the disease by inducing severe hypertriglyceridemia, are contraindicated. Endogenous estrogens may also lead to 'unmasking' of the FPLD2 phenotype, which often appears at puberty and is more severe in females than males. Diet and exercise, adapted to age and potential comorbidities, are essential prerequisites for therapeutic management. Metreleptin therapy can be useful to manage lipodystrophy-related metabolic complications.
- An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure. [Journal Article]
- FEFront Endocrinol (Lausanne) 2018; 9:557
- In children with genetic syndromes, short stature is frequently a characteristic feature that, when associated with other specific manifestations, significantly aids in clinical diagnosis. In this re...
In children with genetic syndromes, short stature is frequently a characteristic feature that, when associated with other specific manifestations, significantly aids in clinical diagnosis. In this report, an atypical case of Noonan syndrome (NS) in a 5.5-year-old child with mesomelic short stature is described. Genetic tests revealed two different mutations in this child. As expected in an NS case, a mutation in PTPN11 gene related to the RAS/MAPK signal transduction pathway was identified. Moreover, a mutation in the SHOX gene that was able to cause disproportionate short stature was detected. A clinical picture of NS with mesomelic short stature makes the diagnosis even more difficult as haploinsufficiency and complete loss of function of SHOX gene are associated with the typical differentiation and proliferation of chondrocytes, leading to mesomelic appearance. This case exemplifies the difficulties that can be encountered in achieving proper diagnoses for children with syndromic diseases and highlights the role of genetic tests in identifying final diagnoses in these patients.
- Cause of Death and End-of-Life Experiences in Individuals with Dementia with Lewy Bodies. [Journal Article]
- JAJ Am Geriatr Soc 2018 Oct 06
- CONCLUSIONS: Study results highlight a critical need for better prognostic counseling and education for persons and families living with DLB. The results of the current study can inform such counseling, but additional studies are needed to further explore expected prognosis of individuals diagnosed clinically with DLB and optimal use of palliative care services.
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- Preliminary observations of mitochondrial dysfunction in Prader-Willi syndrome. [Journal Article]
- AJAm J Med Genet A 2018 Oct 05
- Prader-Willi syndrome (PWS) is a complex multisystem disorder because of errors in genomic imprinting with severe hypotonia, decreased muscle mass, poor suckling, feeding problems and failure to thri...
Prader-Willi syndrome (PWS) is a complex multisystem disorder because of errors in genomic imprinting with severe hypotonia, decreased muscle mass, poor suckling, feeding problems and failure to thrive during infancy, growth and other hormone deficiency, childhood-onset hyperphagia, and subsequent obesity. Decreased energy expenditure in PWS is thought to contribute to reduced muscle mass and physical activity but may also relate to cellular metabolism and disturbances in mitochondrial function. We established fibroblast cell lines from six children and adults with PWS and six healthy controls for mitochondrial assays. We used Agilent Seahorse XF extracellular flux technology to determine real-time measurements of several metabolic parameters including cellular substrate utilization, Adenosine Triphosphate (ATP)-linked respiration, and mitochondrial capacity in living cells. Decreased mitochondrial function was observed in the PWS patients compared to the healthy controls with significant differences in basal respiration, maximal respiratory capacity, and ATP-linked respiration. These results suggest disturbed mitochondrial bioenergetics in PWS although the low number of studied subjects will require a larger subject population before a general consensus can be reached to identify if mitochondrial dysfunction is a contributing factor in PWS.