Database : MEDLINE
Search on : failure and to and thrive [Words]
References found : 5769 [refine]
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[PMID]: 29512044
[Au] Autor:Geier DA; Kern JK; Sykes LK; Geier MR
[Ad] Address:The Institute of Chronic Illnesses, Inc, 14 Redgate Ct, Silver Spring, MD, USA.
[Ti] Title:Mercury-associated diagnoses among children diagnosed with pervasive development disorders.
[So] Source:Metab Brain Dis;, 2018 Mar 06.
[Is] ISSN:1573-7365
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Nelson and Bauman (Pediatrics 111:674-679, 2003) previously hypothesized that pervasive developmental disorder (PDD) was not associated with mercury (Hg) exposure because the medical conditions associated with Hg exposure were not associated with PDD. A hypothesis-testing longitudinal case-control study evaluated the frequency of medically diagnosed conditions previously associated with Hg poisoning, including: epilepsy, dysarthria, failure to thrive, cerebral palsy, or contact dermatitis and other eczema among children preceding their eventual PDD diagnosis (cases) compared to controls. A retrospective examination of medical records within the Vaccine Safety Datalink (VSD) was undertaken. Cases diagnosed with PDD (n = 534) were born from 1991 to 2000 and continuously enrolled until their PDD diagnosis. Controls (n = 26,367) were born from 1991 to 1993 and continuously enrolled from birth for 7.22 years. Within the first 5 years of life, cases compared to controls were significantly (p < 0.0001) more likely to be assigned a diagnosis of contact dermatitis and other eczema (odds ratio (OR) = 2.033), dysarthria (OR = 23.992), epilepsy (OR = 5.351), failure to thrive (OR = 25.3), and cerebral palsy (OR = 4.464). Similar results were observed when the data were separated by gender. Overall, the results of the present study and recently published studies provide direct evidence supporting a link in twelve of twelve categories (100%) of Hg poisoning associated symptoms as defined by Nelson and Bauman (Pediatrics 111:674-679, 2003) and symptoms observed in those with a PDD diagnosis. The results of this study support the biological plausibility of Hg poisoning to induce PDD diagnoses and rejection of the Nelson and Bauman (Pediatrics 111:674-679, 2003) hypothesis because those with a PDD diagnosis have an increased frequency of conditions previously associated with Hg poisoning.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1007/s11011-018-0211-9

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[PMID]: 29509282
[Au] Autor:Zueger PM; Holmes HM; Calip GS; Qato DM; Pickard AS; Lee TA
[Ad] Address:Department of Pharmacy Systems, Outcomes and Policy, University of Illinois at Chicago, Chicago, Illinois.
[Ti] Title:Medicare Part D Use of Older Medicare Beneficiaries Admitted to Hospice.
[So] Source:J Am Geriatr Soc;, 2018 Mar 06.
[Is] ISSN:1532-5415
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: To describe medications that older hospice beneficiaries receive through Medicare Part D and assess patterns in Part D use for individuals admitted to hospice for cancer and noncancer causes. DESIGN: Descriptive cohort analysis using the Surveillance, Epidemiology and End Results (SEER)-Medicare linked database. SETTING: U.S. hospice programs PARTICIPANTS: Part D-enrolled Medicare beneficiaries aged 66 and older who were admitted to hospice and died while under hospice care between January 1, 2008, and December 31, 2013 (N = 88,957). MEASUREMENTS: We determined the 25 most commonly dispensed medications and the prevalence of at least 1 dispensing through Part D after hospice admission. The prevalence and temporal trends in receipt of opioid analgesics and several preventative medication classes are described. RESULTS: More than half of individuals admitted to hospice for cancer (53.5%) and noncancer causes (52.9%) received at least 1 medication through Part D after hospice admission. The prevalence of receiving at least 1 Part D medication after admission was greatest in individuals admitted for debility or failure to thrive (63.5%) and dementia (61.5%) and lowest in those admitted for ischemic stroke (35.4%) and renal disease (36.0%). Beta-blockers, angiotensin-converting enzyme inhibitors, proton pump inhibitors, and statins were among the most common preventative drug classes received overall, although prevalence differed according to admission diagnosis. Nearly 1 in 6 individuals received opioids through Part D after admission, with prevalence steadily decreasing over the study period. CONCLUSION: Receipt of medications through Medicare Part D after hospice admission is common, particularly for preventative medications, and varies according to admission diagnosis. Further research aimed at better understanding individual-, provider-, and healthcare system-level contributors to nonpalliative medication use in the hospice population is warranted.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher
[do] DOI:10.1111/jgs.15328

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[PMID]: 29282788
[Au] Autor:El-Hattab AW; Wang J; Dai H; Almannai M; Staufner C; Alfadhel M; Gambello MJ; Prasun P; Raza S; Lyons HJ; Afqi M; Saleh MAM; Faqeih EA; Alzaidan HI; Alshenqiti A; Flore LA; Hertecant J; Sacharow S; Barbouth DS; Murayama K; Shah AA; Lin HC; Wong LC
[Ad] Address:Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates.
[Ti] Title:MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
[So] Source:Hum Mutat;39(4):461-470, 2018 Apr.
[Is] ISSN:1098-1004
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17, which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17-related mtDNA maintenance defect have been reported with 39 different MPV17 pathogenic variants. In this report, we present an additional 25 affected individuals with nine novel MPV17 pathogenic variants. We summarize the clinical features of all 100 affected individuals and review the total 48 MPV17 pathogenic variants. The vast majority of affected individuals presented with an early-onset encephalohepatopathic disease characterized by hepatic and neurological manifestations, failure to thrive, lactic acidemia, and mtDNA depletion detected mainly in liver tissue. Rarely, MPV17 deficiency can cause a late-onset neuromyopathic disease characterized by myopathy and peripheral neuropathy with no or minimal liver involvement. Approximately half of the MPV17 pathogenic variants are missense. A genotype with biallelic missense variants, in particular homozygous p.R50Q, p.P98L, and p.R41Q, can carry a relatively better prognosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1002/humu.23387

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[PMID]: 29501611
[Au] Autor:Heldt F; Wallaschek H; Ripperger T; Morlot S; Illig T; Eggermann T; Schlegelberger B; Scholz C; Steinemann D
[Ad] Address:Department of Human Genetics, Hannover Medical School, Hannover, Germany. Electronic address: heldt.frederik@mh-hannover.de.
[Ti] Title:12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
[So] Source:Eur J Med Genet;, 2018 Mar 01.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis. Learning problems and cardiac arrhythmia presented as additional features of her brother. Using high-resolution array-CGH, heterozygosity for a 1.67 Mb deletion in 12q14.3 was detected in the index patient. The heterozygous loss was confirmed by MLPA in the index patient and the other two affected family members. The deletion includes the genes HMGA2, LLPH, TMBIM4, IRAK3, HELB, GRIP1, and the pseudogene RPSAP52. We conclude from these results and from the data of other patients reported in the literature that haploinsufficiency of HMGA2 leads to the short stature in this family.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:Publisher

  5 / 5769 MEDLINE  
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[PMID]: 29500650
[Au] Autor:Smitthimedhin A; Suarez A; Webb RL; Otero HJ
[Ad] Address:Children's National Health System, 111 Michigan avenue NW, Washington, DC, 20010, USA. anilawans@gmail.com.
[Ti] Title:Mimics of malrotation on pediatric upper gastrointestinal series: a pictorial review.
[So] Source:Abdom Radiol (NY);, 2018 Mar 03.
[Is] ISSN:2366-0058
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Intestinal malrotation is a continuum of congenital anomalies due to lack of rotation or incomplete rotation of the fetal intestine around the superior mesenteric artery axis. The abnormal bowel fixation (by mesenteric bands) or absence of fixation of portions of the bowel increases the risk of bowel obstruction, acute or chronic volvulus, and bowel necrosis. The clinical presentation of patients with malrotation without, with intermittent, or with chronic volvulus can be problematic, with an important minority presenting late or having atypical or chronic symptoms, such as intermittent vomiting, abdominal pain, duodenal obstruction, or failure to thrive. The diagnosis is heavily reliant on imaging. Upper GI series remain the gold standard with the normal position of the duodenojejunal junction lateral to the left-sided pedicles of the vertebral body, at the level of the duodenal bulb on frontal views and posterior (retroperitoneal) on lateral views. However, a variety of conditions might influence the position of the duodenojejunal junction, potentially leading to a misdiagnosis of malrotation. Such conditions include improper technique, gastric over distension, splenomegaly, renal or retroperitoneal tumors, liver transplant, small bowel obstruction, the presence of properly or malpositioned enteric tubes, and scoliosis. All of these may cause the duodenojejunal junction to be displaced. We present a series of cases highlighting conditions that mimic malrotation without volvulus to increase the practicing radiologist awareness and help minimize interpretation errors.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher
[do] DOI:10.1007/s00261-018-1537-9

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[PMID]: 29500522
[Au] Autor:Kostik MM; Suspitsin EN; Guseva MN; Levina AS; Kazantseva AY; Sokolenko AP; Imyanitov EN
[Ad] Address:Saint-Petersburg State Pediatric Medical University, Litovskaya 2, Saint-Petersburg, 194100, Russian Federation. kost-mikhail@yandex.ru.
[Ti] Title:Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
[So] Source:Rheumatol Int;, 2018 Mar 02.
[Is] ISSN:1437-160X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:NLRP12-related autoinflammatory disease (NLRP12-AID) is an exceptionally rare autosomal dominant disorder caused by germline mutations in NLRP12 gene. Very few patients with NLRP12-AD have been identified worldwide; therefore, there is a scarcity of data on phenotypic presentation of this syndrome. Here we provide evidence that NLRP12-AID may have clinical manifestations characteristic for primary immune deficiencies (PID). 246 children with periodic fever (PF) of unknown origin were subjects to the next generation sequencing (NGS) analysis; 213 of these patients had signs of primary immunodeficiency (PID) manifested by recurrent infections, while 33 kids had isolated PF. The NGS panel was composed of 302 genes implicated in PID and/or AID. 15 patients (9 girls and 6 boys) with NLRP12-AID were identified. Median age of first AID-related fever episode was 12 months, ranging from 2 months to 13 years. Main clinical features of NLRP12-related AID were periodic fever (100%), abdominal pain and diarrhea (47%), arthralgia (20%), headache (20%) and failure to thrive (33%). Nine patients demonstrated increased susceptibility to infection and two children suffered from Crohn's disease. Administration of short courses of NSAID or corticosteroids resulted in resolution of the disease flare. In one severe case, canakinumab (anti-interleukin-1ß antibody) was successfully used. Significant number of patients with genetically assigned diagnosis of NLPR12-AID has clinical features which close resemble primary immune deficiency. This phenotypic overlap may result in underdiagnosis of NLPR12-AID among patients with PID.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher
[do] DOI:10.1007/s00296-018-4002-8

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[PMID]: 29443672
[Au] Autor:Madhavan VL; Curran MA; Lindgren K
[Ad] Address:Massachusetts General Hospital, Boston, MA
[Ti] Title:Case 31-2017: A 19-Month-Old Girl with Failure to Thrive.
[So] Source:N Engl J Med;378(7):686, 2018 02 15.
[Is] ISSN:1533-4406
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Failure to Thrive
Weight Loss
[Mh] MeSH terms secundary: Diagnosis, Differential
Female
Humans
Infant
[Pt] Publication type:JOURNAL ARTICLE; COMMENT
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180215
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMc1714806

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[PMID]: 29429571
[Au] Autor:Piekutowska-Abramczuk D; Assouline Z; Matakovic L; Feichtinger RG; Konariková E; Jurkiewicz E; Stawinski P; Gusic M; Koller A; Pollak A; Gasperowicz P; Trubicka J; Ciara E; Iwanicka-Pronicka K; Rokicki D; Hanein S; Wortmann SB; Sperl W; Rötig A; Prokisch H; Pronicka E; Ploski R; Barcia G; Mayr JA
[Ad] Address:Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
[Ti] Title:NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
[So] Source:Am J Hum Genet;102(3):460-467, 2018 Mar 01.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing variants in genes coding for 27 complex I subunits, including 7 mitochondrial DNA genes, and in 11 genes encoding complex I assembly factors have been reported. Here, we describe rare biallelic variants in NDUFB8 encoding a complex I accessory subunit revealed by whole-exome sequencing in two individuals from two families. Both presented with a progressive course of disease with encephalo(cardio)myopathic features including muscular hypotonia, cardiac hypertrophy, respiratory failure, failure to thrive, and developmental delay. Blood lactate was elevated. Neuroimaging disclosed progressive changes in the basal ganglia and either brain stem or internal capsule. Biochemical analyses showed an isolated decrease in complex I enzymatic activity in muscle and fibroblasts. Complementation studies by expression of wild-type NDUFB8 in cells from affected individuals restored mitochondrial function, confirming NDUFB8 variants as the cause of complex I deficiency. Hereby we establish NDUFB8 as a relevant gene in childhood-onset mitochondrial disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review

  9 / 5769 MEDLINE  
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[PMID]: 29494340
[Au] Autor:Ajarmeh SA; Al Tamimi EM
[Ad] Address:Department of Pediatrics, Faculty of Medicine, Mutah University, 61710 Karak, Jordan.
[Ti] Title:Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan.
[So] Source:J Pediatr Endocrinol Metab;, 2018 Mar 01.
[Is] ISSN:2191-0251
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Backgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155-166del) in exon 3 of the TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation. CASE PRESENTATION: We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for the TBCE mutation. Although malabsorption was initially considered the cause of his symptoms, the results did not confirm that diagnosis. Our patient had cow milk protein allergy and folic acid deficiency, which has not been described in previous SSS cases. It was difficult to treat the patient's hyperphosphatemia and we ultimately selected sevelamer treatment, which was tolerated well and improved his hypocalcemia. CONCLUSIONS: SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher

  10 / 5769 MEDLINE  
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[PMID]: 29248509
[Au] Autor:Leoni C; Flex E
[Ad] Address:Center for Rare Diseases and Birth Defects, Institute of Pediatrics, Department of Woman And Child Health, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: chiara.leoni@policlinicogemelli.it.
[Ti] Title:Costello Syndrome: The Challenge of Hypoglycemia and Failure to Thrive.
[So] Source:EBioMedicine;27:5-6, 2018 Jan.
[Is] ISSN:2352-3964
[Cp] Country of publication:Netherlands
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review


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