scholarly journals Dysphagia as an early presentation of Di George's Syndrome- case report

2021 ◽  
Vol 13 (1) ◽  
pp. 1-6
Author(s):  
Snezana Palchevska ◽  
Beti Gjurkova ◽  
Elena Shukarova ◽  
Katarina Stavrikj ◽  
Jana Jovanovska ◽  
...  
Keyword(s):  
Vascular Ring ◽  
Clinical Signs ◽  
Vascular Anomaly ◽  
Signs And Symptoms ◽  
Lateral View ◽  
Facial Dysmorphism ◽  
Preterm Baby ◽  
Early Presentation ◽  
Feeding Difficulties ◽  
Cardiovascular Anomalies

DiGeorge’s syndrome is a 22q11.2 deletion leading to abnormal embryogenesis of pharyngeal arches and it is manifesting in a variety of clinical signs and symptoms. The spectrum of anomalies varies from minor facial dysmorphism and cleft palate to a broad spectrum of cardiovascular anomalies, thymic disfunction and immune deficiencies, hypocalcemia due tohypoparathyroidism,growth and developmental delay and speech disturbances. Cardiovascular anomalies might include right sided aortic arch, aberrant vesiclesand vascular ring. Here we present an atypical case of partial DiGeorge’s syndrome with feeding and swallowing difficulties and laryngeal stridor in the neonatal period. Early presentation in this period is usually due to severe hypocalcemia and cardiac disease. Feeding difficulties in a preterm baby needed clinical assessment skills in order to establish the diagnosis and delineate it from feeding difficulties usually seen in preterm babies. Esophagogram (barium X Ray) showed antero-posterior oblique impression towards the right side, the latero- lateral view showed impression on the rare side, suspected to be esophageal sub stenosis due to vascular anomaly, aberrant right subclavian arteryand suspectedthymic hypoplasia. We report a 9-year follow up periodbya team of subspecialists. The child had two surgeries due to aberrant vessel and velopharyngeal deficiency. Optimal management of patients with DiGeorge’s syndrome requires a multidisciplinary teamwhichshould include a cardiologist, immunologist, geneticist, speech/language therapist, endocrinologist and other subspecialists depending on patient`'s phenotype.

Expanding the Phenotype of Molybdenum Cofactor Deficiency in Neonates: Report of Two Cases

2021 ◽  
Author(s):  
Shanu Chandran ◽  
Dhayaguruvasan Muthanandam ◽  
Nithya Ponmudi ◽  
Manish Kumar
Keyword(s):  
Metabolic Acidosis ◽  
Respiratory Distress ◽  
Molybdenum Cofactor ◽  
Facial Dysmorphism ◽  
Preterm Baby ◽  
Molybdenum Cofactor Deficiency ◽  
Feeding Difficulties ◽  
Intractable Seizures ◽  
Term Baby ◽  
Cofactor Deficiency

AbstractMolybdenum cofactor deficiency (MoCD) is a rare neurometabolic disorder characterized by intractable seizures, progressive microcephaly, tone abnormalities, facial dysmorphism, and feeding difficulties in the neonatal period. We present two different neonatal cases of MoCD with atypical presentations which could have been easily missed. One is a preterm baby admitted with features of sepsis, poor perfusion, and seizures who later developed tone abnormalities and feeding difficulty. The second is a term baby who presented with stridor, respiratory distress, and metabolic acidosis followed by intractable seizures and encephalopathy. Both babies had characteristic radiological and biochemical findings, and genome sequencing identified mutations in MOCS2 and MOCS1 genes, respectively. MoCD presenting as hypoxic-ischemic encephalopathy and cerebral palsy are well described, but its presentation in preterm with “sepsis-like features with drug-responsive seizures” in the early newborn period is not described, and can also cause unnecessary delay in the diagnosis. Its clinical presentation with “stridor, respiratory distress, and metabolic acidosis” is also described for the first time in literature.

Aortic Arch Anomalies in Adult Disorders of Deglutition

1978 ◽  
Vol 87 (4) ◽  
pp. 498-508 ◽  
Author(s):  
Lee D. Rowe ◽  
William M. Keane ◽  
Louis D. Lowry ◽  
Manoucher Fallenjad
Keyword(s):  
Aortic Arch ◽  
Clinical Signs ◽  
Vascular Anomaly ◽  
Signs And Symptoms ◽  
Aberrant Right Subclavian Artery ◽  
Aortic Arch Anomalies ◽  
Anomalous Artery ◽  
Life Threatening ◽  
Clinical Signs And Symptoms ◽  
Adult Swallowing

Congenital vascular anomalies of the aortic arch are unusual etiologies of dysphagia in the adult. Swallowing abnormalities associated with compression of the esophagus primarily occur at birth or in the immediate neonatal period. However, as the result of arteriosclerotic vascular disease or aneurysm formation, anomalies which were asymptomatic postnatally may produce dysphagia in the adult. A retrospective analysis of 59 cases with aortic arch anomalies presenting initially in adulthood revealed characteristic clinical signs and symptoms. An aberrant right subclavian artery with left aortic arch was the most frequently encountered abnormality. The embryologic development of each vascular anomaly is described and the value of selective arteriography with contrast esophagography is stressed. Patients with minimal swallowing impairment are treated with dietary management alone. Surgical division of the anomalous artery is indicated only when severe dysphagia is associated with progressive life-threatening anorexia and weight loss.

scholarly journals A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant

2021 ◽  
pp. 1-6
Author(s):  
Ummuhan Oncul ◽  
Engin Kose ◽  
Fatma Tuba Eminoglu
Keyword(s):  
Mitochondrial Dna ◽  
Genetic Disorders ◽  
Clinical Signs ◽  
Gene Mutations ◽  
Signs And Symptoms ◽  
Left Ventricular ◽  
Facial Dysmorphism ◽  
Mild Phenotype ◽  
Psychomotor Delay ◽  
Mitochondrial Dna Depletion

Mitochondrial DNA depletion syndromes (MDDS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA maintenance. Among these, <i>FBXL4</i> gene variants result in encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13), which commonly presents as a combination of failure to thrive, neurodevelopmental delays, encephalopathy, hypotonia, a pattern of mild facial dysmorphisms, and persistent lactic acidosis. To date, 53 pathogenic <i>FBXL4</i> variants and 100 cases have been described in the literature. In the present case report, we report on a 4.5-year-old boy with MTDPS13 and a novel variant. The patient had a history of antenatal hydrocephalus, severe developmental delay and mental motor retardation with psychomotor delay, severe hypotonia, mild left ventricular hypertrophic cardiomyopathy, mild facial dysmorphism, and elevated lactate levels. Symptoms suggested mitochondrial myopathy; subsequently, whole-exome sequencing was performed and a novel homozygous variant <i>FBXL4</i> (NM_012160.4): c.486T&#x3e;G (p.Tyr162Ter) was identified. While most of the patients with <i>FBLX4</i> gene mutation have severe clinical manifestation and die at a very young age, clinical progress of our case was milder than previously reported. MDDS are very rare and can present with many different clinical signs and symptoms. In this report, we identified a novel pathogenic variant in the <i>FBXL4</i> gene. This report shows that patients with <i>FBLX4</i> gene mutations may present with a milder clinical phenotype than previously reported.

scholarly journals Magnetic resonance imaging of temporomandibular joint in juvenile idiopathic arthritis

2020 ◽  
Vol 8 (5) ◽  
pp. 1848
Author(s):  
Namrita Sachdev ◽  
Yashvant Singh ◽  
Parikha Rampal ◽  
Sana .
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Joint Effusion ◽  
Facial Dysmorphism ◽  
Cross Sectional ◽  
Wide Range ◽  
Clinical Signs And Symptoms ◽  
Mri Changes ◽  
Sensitivity Specificity

Background: Juvenile Idiopathic Arthritis (JIA) is the most common autoimmune inflammatory synovial arthritis causing wide range of disability in children. The involvement of temporo-mandibular joint (TMJ) in JIA varies ranging from 17% to 87%. Unlike other synovial joints, the TM joint is particularly vulnerable to inflammatory damage as the mandibular growth plate is superficial. JIA is a clinical diagnosis and is characterized by synovial hyperplasia and inflammation leading to joint effusion. TMJ involvement is clinically difficult to assess and often goes untreated. Children with TMJ arthritis have mastication dysfunction and pain. Delayed detection and treatment leads to abnormalities like micrognathia, jaw deformity, facial dysmorphism and chewing problems. MRI is the most sensitive modality to diagnose synovitis and involvement of TMJ in children of JIA.Methods: A cross-sectional observational study was undertaken in 30 children diagnosed as JIA as per ILAE criteria. They were evaluated clinically followed by contrast enhanced MRI for evidence of TMJ arthritis.Results: Of the 60 joints evaluated, clinical involvement was found in 18 joints (10 patients). 12(66.7%) out of them had MRI changes. 3(7.1%) joints out of 42 asymptomatic joints had MRI changes. 13 joints had synovial hypertrophy, 8 joints showed bone erosions. Bone marrow edema was seen in 2 joints, with no evidence of cartilage involvement in any joint. The sensitivity, specificity, PPV and NPV of clinical examination to diagnose TMJ arthritis as compared to MRI was 80.0%, 86.7%, 66.7% and 92.7% respectively.Conclusions: With paucity of clinical signs and symptoms, early involvement of TMJ arthritis in children of JIA can be detected by MRI to prevent long term disability in patients.

Infection surveillance in nursing homes in Stockholm County, Sweden, 2005 - 2014

2016 ◽  
Vol 12 (3) ◽  
Author(s):  
Ann Tammelin
Keyword(s):  
Nursing Homes ◽  
Infection Control ◽  
Urinary Catheter ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
County Council ◽  
Antibiotic Prescribing ◽  
Viral Gastroenteritis ◽  
Stockholm County ◽  
Infection Surveillance

Swedish nursing homes are obliged to have a management system for systematic quality work including self-monitoring of which surveillance of infections is one part. The Department of Infection Control in Stockholm County Council has provided a simple system for infection surveillance to the nursing homes in Stockholm County since 2002. A form is filled in by registered nurses in the nursing homes at each episode of infection among the residents. A bacterial infection is defined by antibiotic prescribing and a viral infection by clinical signs and symptoms. Yearly reports of numbers of infections in each nursing home and calculated normalized figures for incidence, i.e. infections per 100 residents per year, as well as proportion of residents with urinary catheter are delivered to the medically responsible nurses in each municipality by the Department of Infection Control. Number of included residents has varied from 4,531 in 2005 to 8,157 in 2014 with a peak of 10,051 in 2009. The yearly incidences during 2005 - 2014 (cases per 100 residents) were: Urinary tract infection (UTI) 7.9-16.0, Pneumonia 3.7-5.3, Infection of chronic ulcer 3.4–6.8, Other infection in skin or soft tissue 1.4–2.9, Clostridium difficile-infection 0.2–0.7, Influenza 0–0.4 and Viral gastroenteritis 1.2–3.7. About 1 % of the residents have a suprapubic urinary catheter, 6–7 % have an indwelling urinary catheter. Knowledge about the incidence of UTI has contributed to the decrease of this infection both in residents with and without urinary catheter.

scholarly journals Prevalence and Course of IgA and IgG Antibodies against SARS-CoV-2 in Healthcare Workers during the First Wave of the COVID-19 Outbreak in Germany: Interim Results from an Ongoing Observational Cohort Study

Healthcare ◽  
2021 ◽  
Vol 9 (5) ◽  
pp. 498
Author(s):  
Mark Reinwald ◽  
Peter Markus Deckert ◽  
Oliver Ritter ◽  
Henrike Andresen ◽  
Andreas G. Schreyer ◽  
...  
Keyword(s):  
Cohort Study ◽  
Healthcare Workers ◽  
Significant Proportion ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Observational Cohort Study ◽  
Igg Antibodies ◽  
University Hospitals ◽  
Observational Cohort

(1) Background: Healthcare workers (HCWs) are prone to intensified exposure to severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection in the ongoing pandemic. We prospectively analyzed the prevalence of antibodies against SARS-CoV-2 in HCWs at baseline and follow up with regard to clinical signs and symptoms in two university hospitals in Brandenburg, Germany. (2) Methods: Screening for anti-SARS-CoV-2 IgA and IgG antibodies was offered to HCWs at baseline and follow up two months thereafter in two hospitals of Brandenburg Medical School during the first wave of the COVID-19 pandemic in Germany in an ongoing observational cohort study. Medical history and signs and symptoms were recorded by questionnaires and analyzed. (3) Results: Baseline seroprevalence of anti-SARS-CoV-2 IgA was 11.7% and increased to 15% at follow up, whereas IgG seropositivity was 2.1% at baseline and 2.2% at follow up. The rate of asymptomatic seropositive cases was 39.5%. Symptoms were not associated with general seropositivity for anti-SARS-CoV-2; however, class switch from IgA to IgG was associated with increased symptom burden. (4) Conclusions: The seroprevalence of antibodies against SARS-CoV-2 was low in HCWs but higher compared to population data and increased over time. Screening for antibodies detected a significant proportion of seropositive participants cases without symptoms.

scholarly journals Wolman’s disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Fahad Alabbas ◽  
Ghaleb Elyamany ◽  
Talal Alanzi ◽  
Tahani Bin Ali ◽  
Fatma Albatniji ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Metabolic Disorder ◽  
Clinical Signs ◽  
Failure To Thrive ◽  
Severe Infection ◽  
Signs And Symptoms ◽  
Immune Deficiency Syndrome ◽  
Autoimmune Disorder ◽  
Deficiency Syndrome ◽  
Homozygous Deletion

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome that is characterized by strong activation of the immune system from hyperinflammatory cytokines. Symptoms of HLH patients include fever, hepatosplenomegaly, cytopenia, and hyperferritinemia. Inherited HLH is classified as primary, whereas secondary HLH (sHLH) occurs when acquired from non-inherited reasons that include severe infection, immune deficiency syndrome, autoimmune disorder, neoplasm, and metabolic disorder. Wolman’s disease (WD) is a rare and fatal infantile metabolic disorder caused by lysosomal acid lipase deficiency, that exhibits similar clinical signs and symptoms as HLH. This paper reports the case of an infant diagnosed with WD and who presented with sHLH. Case presentation A 4-month-old infant presenting with hepatosplenomegaly, failure to thrive, and other abnormalities. WD diagnosis was confirmed by the presence of the LIPA gene homozygous deletion c.(428 + 1_967-1)_(*1_?)del. The infant also met the HLH-2004 diagnostic criteria. Conclusions Metabolic disorder such as WD should be investigated in infants fulfilling the HLH criteria to diagnose the underlying condition. More studies are needed to understand the link between WD and sHLH and to identify appropriate therapies.

scholarly journals Dementia and Major Neurocognitive Disorders: Some Lessons Learned One Century after the first Alois Alzheimer’s Clinical Notes

Geriatrics ◽  
2021 ◽  
Vol 6 (1) ◽  
pp. 5
Author(s):  
Donatella Rita Petretto ◽  
Gian Pietro Carrogu ◽  
Luca Gaviano ◽  
Lorenzo Pili ◽  
Roberto Pili
Keyword(s):  
Young Woman ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Neurocognitive Disorders ◽  
Lessons Learned ◽  
Alzheimer Dementia ◽  
Clinical Notes ◽  
Alois Alzheimer ◽  
Clinical Signs And Symptoms

Over 100 years ago, Alois Alzheimer presented the clinical signs and symptoms of what has been later called “Alzheimer Dementia” in a young woman whose name was Augustine Deter [...]

scholarly journals MED12-Related (Neuro)Developmental Disorders: A Question of Causality

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 663
Author(s):  
Stijn van de Plassche ◽  
Arjan PM de Brouwer
Keyword(s):  
Developmental Disorders ◽  
De Novo ◽  
Expression Patterns ◽  
Mediator Complex ◽  
Gene Expression Patterns ◽  
Facial Dysmorphism ◽  
Regulation Of Transcription ◽  
Feeding Difficulties ◽  
Missense Variants ◽  
Pathogenic Variants

MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability (ID) in hemizygous males. Recently, female patients with de novo missense variants and de novo protein truncating variants in MED12 were described, resulting in a clinical spectrum centered around ID and Hardikar syndrome without ID. The missense variants are found throughout MED12, whether they are inherited in hemizygous males or de novo in females. They can result in syndromic or nonsyndromic ID. The de novo nonsense variants resulting in Hardikar syndrome that is characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, are found more N-terminally, whereas the more C-terminally positioned variants are de novo protein truncating variants that cause a severe, syndromic phenotype consisting of ID, facial dysmorphism, short stature, skeletal abnormalities, feeding difficulties, and variable other abnormalities. This broad range of distinct phenotypes calls for a method to distinguish between pathogenic and non-pathogenic variants in MED12. We propose an isogenic iNeuron model to establish the unique gene expression patterns that are associated with the specific MED12 variants. The discovery of these patterns would help in future diagnostics and determine the causality of the MED12 variants.

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