scholarly journals Neonatal alloimmune thrombocytopenia: two different neonatal manifestations of the same disease

2021 ◽  
Vol 10 (7) ◽  
pp. 2867
Author(s):  
Miguel P. Pereira ◽  
Marta Pinto ◽  
Mafalda Lucas ◽  
Ana P. Domingues ◽  
Cristina Matos ◽  
...  
Keyword(s):  
Family History ◽  
Intracranial Haemorrhage ◽  
Rare Disorder ◽  
Obstetric Management ◽  
Alloimmune Thrombocytopenia ◽  
Clinical Cases

Fetal and neonatal alloimmune thrombocytopenia is a rare disorder in which maternal alloantibodies cross the placenta and cause fetal thrombocytopenia. Most cases are mild but can be potentially fatal if there is an intracranial haemorrhage. Usually, the mother is asymptomatic during pregnancy and no screening is routinely recommended unless there is obstetric or family history. After birth, prompt identification is crucial so that the newborn is closely monitored and treatment is given, if needed, to prevent serious complications. In this article we present two clinical cases of fetal and neonatal alloimmune thrombocytopenia in first-born children, after uneventful pregnancies, with different outcomes and discuss the obstetric management and follow-up in future pregnancies.

scholarly journals Failure analysis and recommendations for treatment of posttraumatic non-unions of the distal humerus during childhood

2021 ◽  
Vol 47 (2) ◽  
pp. 313-324 ◽  
Author(s):  
Dirk Walther Sommerfeldt ◽  
Peter Paul Schmittenbecher
Keyword(s):  
Failure Analysis ◽  
Revision Surgery ◽  
Distal Humerus ◽  
Implant Removal ◽  
Supracondylar Fractures ◽  
Stable Fixation ◽  
Non Union ◽  
Pediatric Traumatology ◽  
Clinical Cases

Abstract Purpose Non-unions of the distal humerus are rare complications of common children’s fractures such as radial condyle fractures and supracondylar fractures. The aim of this paper was to update the knowledge about etiology, reasons, management, and results of these troublesome, and sometimes debilitating entities. Methods The sparse literature concerning nonunions following condylar or supracondylar fractures was analyzed together with the presentation of some typical clinical cases. Results In most of the cases, non-unions were induced by neglect, unstable fixation, too early implant removal, too much revision surgery, and an inconsequent transfer of follow-up algorithms, or combinations of the above. Treatment of non-union should start as early as possible because the effort of required surgery increases with time that the nonunion has been neglected. Often a combination of stable fixation of the pseudarthrosis and correction of the elbow axis are necessary to achieve a satisfying outcome. Conclusion In pediatric traumatology, qualified and consequent care for children’s fractures of the distal humerus can prevent rare complications such as non-unions in almost any situation. If such a disturbance of healing is noticed, immediate and adequate, i.e. children specific surgical consequences achieve best results.

scholarly journals AB1065 VISIT COMPLIANCE IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER: RESULTS FROM A GAZI UNIVERSITY FMF COHORT

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1822.1-1822
Author(s):  
R. Bilici Salman ◽  
A. Avanoğlu Güler ◽  
H. Satiş ◽  
H. Karadeniz ◽  
H. Babaoglu ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Family History ◽  
Familial Mediterranean Fever ◽  
Predictive Factors ◽  
Severity Score ◽  
Comorbid Disease ◽  
Rheumatology Clinic ◽  
Mediterranean Fever ◽  
One Year

Background:Follow-up in all rheumatologic patients is critical, particularly Familial Mediterranean Fever (FMF). Current recommendations for all experts by the EULAR state that patients with FMF should be evaluated 6-monthly intervals to monitore the character and frequency of the attacks and the acute phase response. Disease-related complications such as amyloidosis can beasymptomaticand need only a careful follow-up.Objectives:to quantify this phenomenon and to find predictive factors of visit compliance in patients with FMF.Methods:The study included 474 adult patients with a diagnosis of FMF who followed at the outpatient rheumatology clinic of tertiary university hospital, from January 2018 to December 2018. . Demographic, socioeconomic data, familiy history, comorbid disease, medication history, characteristics, the International Severity Score for FMF (ISSF),autoinflammatory disease damage index (ADDI) were recorded. Visit compliance was defined as the presence of two visits in the outpatient rheumatology clinic for FMF last one year for the purposes set out in EULAR suggestion.Those who had fewer than two visits in the last one year were considered noncompliant.Results:230 (48.5%) were compliant while 244 (51.5 %) patients were noncompliant with their rheumatology visit. Both compliant and noncompliant patients had similar median age and disease duration. Female sex and being married was increased the visit compliance.The results of the logistic regression model exploring factors associated with compliance indicated that presence of family history in parents, absence of family history in sibling, treatment with biologic agents, other drug using,presence of more than 2 attacks except fever and adequate medical care were important predictors of visit compliance.Conclusion:In conclusion, if FMF patients visit compliance increase, their functionality, medication adherence and quality of life will increase and flares and complication of disease can decrease. Thus, we highlight some recommendations for FMF specialist, patients and health care providers to improve outcomes.Table 2.Multivariate logistic regression analysis for predictive factors of visit compliance of the patients with FMF, n=430Adj. OR%95 CI**pFamily history in parents(positive history vs negative)1,81,0-3,10.03Family history in sibling(negative history vs positive)1,91,2-3,10.004Comorbid disease status1,30,7-2,50.32Treatment(anakinra&canakinumab vs colchicine)3,71,7-8,20.001Drug using(other drugs vs FMF drugs)2,21,1-4,40.01More than 2 attacks except fever2,31,2-4,00.004Chronic peripheral arthritis2,30,8-6,60.10Proteinuria2,20,7-6,70.14Adequate medical care1,91,2-3,10.003Number of index flare within last 12-month0,90,9-1,00.38ISSF severity score0,80,7-1,10,30Disclosure of Interests:None declared

scholarly journals Vitamin D status and risk of type 2 diabetes in the Norwegian HUNT cohort study: does family history or genetic predisposition modify the association?

2021 ◽  
Vol 9 (1) ◽  
pp. e001948
Author(s):  
Marion Denos ◽  
Xiao-Mei Mai ◽  
Bjørn Olav Åsvold ◽  
Elin Pettersen Sørgjerd ◽  
Yue Chen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Genetic Predisposition ◽  
Effect Modification ◽  
P Value ◽  
Family History Of Diabetes ◽  
Increased Risk ◽  
History Of

IntroductionWe sought to investigate the relationship between serum 25-hydroxyvitamin D (25(OH)D) level and the risk of type 2 diabetes mellitus (T2DM) in adults who participated in the Trøndelag Health Study (HUNT), and the possible effect modification by family history and genetic predisposition.Research design and methodsThis prospective study included 3574 diabetes-free adults at baseline who participated in the HUNT2 (1995–1997) and HUNT3 (2006–2008) surveys. Serum 25(OH)D levels were determined at baseline and classified as <50 and ≥50 nmol/L. Family history of diabetes was defined as self-reported diabetes among parents and siblings. A Polygenic Risk Score (PRS) for T2DM based on 166 single-nucleotide polymorphisms was generated. Incident T2DM was defined by self-report and/or non-fasting glucose levels greater than 11 mmol/L and serum glutamic acid decarboxylase antibody level of <0.08 antibody index at the follow-up. Multivariable logistic regression models were applied to calculate adjusted ORs with 95% CIs. Effect modification by family history or PRS was assessed by likelihood ratio test (LRT).ResultsOver 11 years of follow-up, 92 (2.6%) participants developed T2DM. A higher risk of incident T2DM was observed in participants with serum 25(OH)D level of<50 nmol/L compared with those of ≥50 nmol/L (OR 1.72, 95% CI 1.03 to 2.86). Level of 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in adults without family history of diabetes (OR 3.87, 95% CI 1.62 to 9.24) but not in those with a family history (OR 0.72, 95% CI 0.32 to 1.62, p value for LRT=0.003). There was no effect modification by PRS (p value for LRT>0.23).ConclusionSerum 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in Norwegian adults. The inverse association was modified by family history of diabetes but not by genetic predisposition to T2DM.

scholarly journals Eculizumab discontinuation in atypical hemolytic uremic syndrome: TMA recurrence risk and renal outcomes

2021 ◽  
Author(s):  
Gema Ariceta ◽  
Fadi Fakhouri ◽  
Lisa Sartz ◽  
Benjamin Miller ◽  
Vasilis Nikolaou ◽  
...  
Keyword(s):  
Family History ◽  
Hemolytic Uremic Syndrome ◽  
Univariate Analysis ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Renal Response ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
History Of ◽  
Uremic Syndrome

ABSTRACT Background Eculizumab modifies the course of disease in patients with atypical hemolytic uremic syndrome (aHUS), but data evaluating whether eculizumab discontinuation is safe are limited. Methods Patients enrolled in the Global aHUS Registry who received ≥1 month of eculizumab before discontinuing, demonstrated hematologic or renal response prior to discontinuation and had ≥6 months of follow-up were analyzed. The primary endpoint was the proportion of patients suffering thrombotic microangiopathy (TMA) recurrence after eculizumab discontinuation. Additional endpoints included: eGFR changes following eculizumab discontinuation to last available follow-up; number of TMA recurrences; time to TMA recurrence; proportion of patients restarting eculizumab; and changes in renal function. Results We analyzed 151 patients with clinically diagnosed aHUS who had evidence of hematologic or renal response to eculizumab, before discontinuing. Thirty-three (22%) experienced a TMA recurrence. Univariate analysis revealed that patients with an increased risk of TMA recurrence after discontinuing eculizumab were those with a history of extrarenal manifestations prior to initiating eculizumab, pathogenic variants, or a family history of aHUS. Multivariate analysis showed an increased risk of TMA recurrence in patients with pathogenic variants and a family history of aHUS. Twelve (8%) patients progressed to end-stage renal disease after eculizumab discontinuation; 7 (5%) patients eventually received a kidney transplant. Forty (27%) patients experienced an extrarenal manifestation of aHUS after eculizumab discontinuation. Conclusions Eculizumab discontinuation in patients with aHUS is not without risk, potentially leading to TMA recurrence and renal failure. A thorough assessment of risk factors prior to the decision to discontinue eculizumab is essential.

Predictors of abdominal adipose tissue compartments: 18-year follow-up of young men with and without family history of diabetes

2016 ◽  
Vol 29 ◽  
pp. 26-31 ◽  
Author(s):  
Sigrid Nordang Skårn ◽  
Heidi B. Eggesbø ◽  
Arnljot Flaa ◽  
Sverre E. Kjeldsen ◽  
Morten Rostrup ◽  
...  
Keyword(s):  
Adipose Tissue ◽  
Family History ◽  
Young Men ◽  
Family History Of Diabetes ◽  
Abdominal Adipose Tissue ◽  
History Of ◽  
Tissue Compartments

CHOREA GRAVIDARUM: A RARE CASE REPORT

2021 ◽  
pp. 71-72
Author(s):  
Aswini Viswanadh ◽  
Sujata Singh ◽  
Vinnisa N. V
Keyword(s):  
Case Report ◽  
Family History ◽  
Gestational Age ◽  
Postpartum Period ◽  
Rare Case ◽  
Third Trimester ◽  
Detailed Evaluation ◽  
Rare Case Report

Chorea gravidarum is the term given to chorea occurring during pregnancy. Here, we report a case of 24 year old primigravida at gestational age 38 weeks 3days ,without any signicant past & family history who presented with chorea gravidarum for the rst time in third trimester. On detailed evaluation no etiology was identied. On follow up in postpartum period, her choreiform movements have reduced in intensity, but is still persisting pointing towards an idiopathic origin.

scholarly journals Glanzmann thrombasthenia in pregnancy: Optimising maternal and fetal outcomes

2016 ◽  
Vol 9 (4) ◽  
pp. 169-170 ◽  
Author(s):  
A Wijemanne ◽  
I Watt-Coote ◽  
S Austin
Keyword(s):  
Intracranial Haemorrhage ◽  
Autosomal Recessive ◽  
Postpartum Haemorrhage ◽  
Multidisciplinary Care ◽  
Maternal Outcomes ◽  
Fetal Outcomes ◽  
Glanzmann Thrombasthenia ◽  
Neonatal Complications ◽  
Alloimmune Thrombocytopenia ◽  
In Pregnancy

Glanzmann thrombasthenia is a rare autosomal recessive haemorrhagic disorder. The risks of miscarriage, antepartum and postpartum haemorrhage, and neonatal complications are all increased in individuals presenting with the disease in pregnancy. Some individuals may develop antibodies to platelet glycoproteins; the presence of these antibodies is a rare cause of neonatal alloimmune thrombocytopenia and potential intracranial haemorrhage. Multidisciplinary care is paramount for ensuring optimal fetal and maternal outcomes in such cases. We report a case of neonatal alloimmune thrombocytopenia secondary to maternal Glanzmann thrombasthenia in pregnancy.

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