Aggressive infantile myofibromatosis with intestinal involvement

Abstract Background Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral lesions. Germline gain-of-function mutations in PDGFRB have been identified as the most common molecular defect in familial IM. Case presentation We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy. Conclusions PDGFRB-driven IM is clinically challenging due to its fluctuating course and multiple organ involvement in the first years of life. Early molecular genetic analysis is necessary to consider tyrosine kinase inhibitor treatment in case of aggressive visceral lesions.

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Molecular genetic analysis of porcine von Willebrand disease: tight linkage to the von Willebrand factor locus

Blood ◽

10.1182/blood.v72.1.308.bloodjournal721308 ◽

1988 ◽

Vol 72 (1) ◽

pp. 308-313 ◽

Cited By ~ 1

Author(s):

WF Bahou ◽

EJ Bowie ◽

DN Fass ◽

D Ginsburg

Keyword(s):

Von Willebrand Factor ◽

Molecular Basis ◽

Gene Deletion ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Von Willebrand Disease ◽

Molecular Defect ◽

Human Disorder ◽

Von Willebrand ◽

Willebrand Factor

von Willebrand disease (vWD), one of the most common bleeding disorders in humans, is manifested as a quantitative or qualitative defect in von Willebrand factor (vWF), an adhesive glycoprotein (GP) with critical hemostatic functions. Except for the rare severely affected patient with a gene deletion as etiology of the disease, the molecular basis for vWD is not known. We studied the molecular basis for vWD in a breeding colony of pigs with a disease closely resembling the human disorder. The porcine vWF gene is similar in size and complexity to its human counterpart, and no gross gene deletion or rearrangement was evident as the pathogenesis of porcine vWD. A restriction fragment- length polymorphism (RFLP) within the porcine vWF gene was identified with the restriction endonuclease HindIII, and 22/35 members of the pedigree were analyzed for the polymorphic site. Linkage between the vWF locus and the vWD phenotype was established with a calculated LOD score of 5.3 (1/200,000 probability by chance alone), with no crossovers identified. These findings indicate that porcine vWD is due to a molecular defect within (or near) the vWF locus, most likely representing a point mutation or small insertion/deletion within the vWF gene.

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Molecular genetic analysis of porcine von Willebrand disease: tight linkage to the von Willebrand factor locus

Blood ◽

10.1182/blood.v72.1.308.308 ◽

1988 ◽

Vol 72 (1) ◽

pp. 308-313 ◽

Cited By ~ 21

Author(s):

WF Bahou ◽

EJ Bowie ◽

DN Fass ◽

D Ginsburg

Keyword(s):

Von Willebrand Factor ◽

Molecular Basis ◽

Gene Deletion ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Von Willebrand Disease ◽

Molecular Defect ◽

Human Disorder ◽

Von Willebrand ◽

Willebrand Factor

Abstract von Willebrand disease (vWD), one of the most common bleeding disorders in humans, is manifested as a quantitative or qualitative defect in von Willebrand factor (vWF), an adhesive glycoprotein (GP) with critical hemostatic functions. Except for the rare severely affected patient with a gene deletion as etiology of the disease, the molecular basis for vWD is not known. We studied the molecular basis for vWD in a breeding colony of pigs with a disease closely resembling the human disorder. The porcine vWF gene is similar in size and complexity to its human counterpart, and no gross gene deletion or rearrangement was evident as the pathogenesis of porcine vWD. A restriction fragment- length polymorphism (RFLP) within the porcine vWF gene was identified with the restriction endonuclease HindIII, and 22/35 members of the pedigree were analyzed for the polymorphic site. Linkage between the vWF locus and the vWD phenotype was established with a calculated LOD score of 5.3 (1/200,000 probability by chance alone), with no crossovers identified. These findings indicate that porcine vWD is due to a molecular defect within (or near) the vWF locus, most likely representing a point mutation or small insertion/deletion within the vWF gene.

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A rare case of sorafenib-induced severe hyponatremia

SAGE Open Medical Case Reports ◽

10.1177/2050313x19846048 ◽

2019 ◽

Vol 7 ◽

pp. 2050313X1984604 ◽

Cited By ~ 2

Author(s):

Misbahuddin Khaja ◽

Frantz Torchon ◽

Konstantin Millerman

Keyword(s):

Rare Case ◽

Kinase Inhibitor ◽

Cell Cancer ◽

Hepatocellular Cancer ◽

Abnormal Liver Function Test ◽

Serious Adverse Event ◽

Case Presentation ◽

Function Test ◽

Hand Foot Syndrome ◽

Life Threatening

Background: Sorafenib is an anti-angiogenic tyrosine kinase inhibitor used to treat patients with renal cell cancer and advanced hepatocellular cancer. Common adverse effects of sorafenib are rash, diarrhea, nausea, and abnormal liver function test and hand-foot syndrome. Case presentation: Here, we present a case of a 90-year-old male who was prescribed sorafenib after being diagnosed with hepatocellular cancer. At 1 week after sorafenib initiation, he was admitted to the emergency room for an evaluation of weakness. The patient had hyponatremia, a common electrolyte abnormality seen in cancer patients. His hyponatremia improved when the sorafenib was stopped, suggesting that this was a rare case of hyponatremia induced by sorafenib. Conclusion: Although sorafenib is used in the treatment of hepatocellular cancer, it can cause life-threatening complication such as hyponatremia. Early identification of the cause of hyponatremia can prevent serious adverse event.

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Fatal accidental lipid overdose with intravenous composite lipid emulsion in a premature newborn: a case report

BMC Pediatrics ◽

10.1186/s12887-021-03064-6 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Maliha Badr ◽

Marion Goulard ◽

Bénédicte Theret ◽

Agathe Roubertie ◽

Stéphanie Badiou ◽

...

Keyword(s):

Exchange Transfusion ◽

Lipid Emulsion ◽

Infusion Pump ◽

Serum Triglyceride ◽

Multiple Organ ◽

Serum Triglyceride Level ◽

Case Presentation ◽

Pump Flow Rate ◽

Life Threatening ◽

High Frequency Oscillatory

Abstract Background Tenfold or more overdose of a drug or preparation is a dreadful adverse event in neonatology, often due to an error in programming the infusion pump flow rate. Lipid overdose is exceptional in this context and has never been reported during the administration of a composite intravenous lipid emulsion (ILE). Case presentation Twenty-four hours after birth, a 30 weeks’ gestation infant with a birthweight of 930 g inadvertently received 28 ml of a composite ILE over 4 h. The ILE contained 50% medium-chain triglycerides and 50% soybean oil, corresponding to 6 g/kg of lipids (25 mg/kg/min). The patient developed acute respiratory distress with echocardiographic markers of pulmonary hypertension and was treated with inhaled nitric oxide and high-frequency oscillatory ventilation. Serum triglyceride level peaked at 51.4 g/L, 17 h after the lipid overload. Triple-volume exchange transfusion was performed twice, decreasing the triglyceride concentration to < 10 g/L. The infant’s condition remained critical, with persistent bleeding and shock despite supportive treatment and peritoneal dialysis. Death occurred 69 h after the overdose in a context of refractory lactic acidosis. Conclusions Massive ILE overdose is life-threatening in the early neonatal period, particularly in premature and hypotrophic infants. This case highlights the vigilance required when ILEs are administered separately from other parenteral intakes. Exchange transfusion should be considered at the first signs of clinical or biological worsening to avoid progression to multiple organ failure.

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Pathogenic Aspects of Inherited Platelet Disorders

Hämostaseologie ◽

10.1055/a-1665-6249 ◽

2021 ◽

Vol 41 (06) ◽

pp. 460-468

Author(s):

Doris Boeckelmann ◽

Hannah Glonnegger ◽

Kirstin Sandrock-Lang ◽

Barbara Zieger

Keyword(s):

Platelet Function ◽

Function Analysis ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Additional Surgery ◽

Wound Healing Problems ◽

Life Threatening ◽

Platelet Disorders ◽

Platelet Defects ◽

Pulmonary Bleeding

AbstractInherited platelet disorders (IPDs) constitute a large heterogeneous group of rare bleeding disorders. These are classified into: (1) quantitative defects, (2) qualitative disorders, or (3) altered platelet production rate disorders or increased platelet turnover. Classically, IPD diagnostic is based on clinical phenotype characterization, comprehensive laboratory analyses (platelet function analysis), and, in former times, candidate gene sequencing. Today, molecular genetic analysis is performed using next-generation sequencing, mostly by targeting enrichment of a gene panel or by whole-exome sequencing. Still, the biochemical and molecular genetic characterization of patients with congenital thrombocytopathias/thrombocytopenia is essential, since postoperative or posttraumatic bleeding often occurs due to undiagnosed platelet defects. Depending upon the kind of surgery or trauma, this bleeding may be life-threatening, e.g., after tonsillectomy or in brain surgery. Undiagnosed platelet defects may lead to additional surgery, hysterectomy, pulmonary bleeding, and even resuscitation. In addition, these increased bleeding symptoms can lead to wound healing problems. Only specialized laboratories can perform the special platelet function analyses (aggregometry, flow cytometry, or immunofluorescent microscopy of the platelets); therefore, many IPDs are still undetected.

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Invasive liver abscess caused by hypervirulent Klebsiella pneumoniae: case report and literature review

10.21203/rs.3.rs-64114/v1 ◽

2020 ◽

Author(s):

Xiao-Guang Xiao ◽

Zhao-Hong Mu ◽

Qing-Dong Li ◽

Yong-Li Zhang

Keyword(s):

Literature Review ◽

Klebsiella Pneumoniae ◽

Liver Abscess ◽

Pathogenic Bacteria ◽

Multiple Organ ◽

Multiple Organ Dysfunction ◽

Antimicrobial Drugs ◽

Case Presentation ◽

Life Threatening

Abstract Background: Klebsiella pneumoniae is a common pathogenic bacteria that cause infectious diseases, Klebsiella pneumoniae invasive liver abscess syndrome is a rare disease, which often caused by hypervirulent Klebsiella pneumoniae(hvKP), the hvKP patients with sepsis may have life-threatening multiple organ dysfunction and visual sequelae.Case presentation: We report a case of Klebsiella pneumoniae invasive liver abscess syndrome caused by hvKP, the patient was treated with long-term antibiotic treatment, along with controlling blood sugar with Insulin, and the patient was eventually discharged from the hospital. Case analysis and literature review were performed to improve the understanding of invasive liver abscess caused by hvKP.Conclusions Patients with hvKP invasive liver abscess are in relatively severe conditions and often have poor visual prognosis. Appropriate antimicrobial drugs should be administered to prevent complications and improve prognosis.

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THE CLINICAL AND GENETIC ASPECTS OF DIFFUSE INFILTRATING RETINOBLASTOMA: A LITERATURE REVIEW AND CLINICAL CASE PRESENTATION

Russian Pediatric Ophthalmology ◽

10.18821/1993-1859-2017-12-2-107-112 ◽

2017 ◽

Vol 12 (2) ◽

pp. 107-112

Author(s):

S. V Saakyan ◽

Alexandr Yur’evich Tsygankov

Keyword(s):

Clinical Case ◽

Molecular Genetic ◽

Short Review ◽

Molecular Genetic Analysis ◽

Care Needs ◽

Case Presentation ◽

Secondary Objective ◽

And Gender ◽

Available Information

Purpose. The objective of the present study was to provide a short review and summarize the available information concerning the main symptoms of diffuse infiltrating retinoblastoma encountered in the ophthalmological practice and compare them with the manifestations of typical retinoblastoma. The secondary objective was to discuss the genetic paradigm of diffuse infiltrating retinoblastoma that is frequently interpreted as a sporadic condition despite the evidence suggesting its genetic predisposition and inheritable etiology that have become increasingly widely recognized during the last years. A literature search for the information about diffuse infiltrating retinoblastoma in the Russian, English, German, and Spanish scientific journals made it possible to reveal a total of 77 patients described in the available literature. In addition, the main specific clinical and gender-related features of diffuse infiltrating retinoblastoma were identified. The results of initial working diagnostics and referral diagnoses are presented with special reference to the importance of the molecular-genetic analysis and the multidisciplinary approach to the treatment and examination of the patients and their relatives. It is concluded that the adequate medical follow-up care needs to be provided in order to diagnose the possible associated cancers. A clinical case of diffuse infiltrative retinoblastoma in a 6-year old male patient is presented.

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Multi-Site Infections Caused by Methicillin-Resistant Staphylococcus Aureus in a Six-Year Old Girl: A Rare Case Report

10.21203/rs.3.rs-202467/v1 ◽

2021 ◽

Author(s):

pei xiao ◽

Jing Liu ◽

Xue Yang ◽

Yixue Wang ◽

Weiming Chen ◽

...

Keyword(s):

Staphylococcus Aureus ◽

Pediatric Patients ◽

Methicillin Resistant Staphylococcus Aureus ◽

Multiple Organ ◽

Case Presentation ◽

Methicillin Resistant ◽

Interdisciplinary Approaches ◽

Rare Case Report ◽

Life Threatening ◽

Mrsa Infection

Abstract Background Community-associated Methicillin-resistant Staphylococcus aureus (CA-MRSA) is an emerging pathogen that leads to severe outcomes, especially in pediatric patients with multiple site infections. Case presentation: We report a case of a multiple organ and life-threatening infection caused by CA-MRSA in a 6-year-old girl who manifested sepsis, myelitis, purulent arthritis, purulent meningitis, hydropericardium, pneumonia, and empyema. The girl exhibited good response to the combination therapy of linezolid and rifampicin after treatment with vancomycin failed due to delay in achieving target serum concentration. We performed pleural effusion and hydropericardium effusion drainage and treated left lower limb infection using interdisciplinary approaches. Conclusion This case highlights the need to be aware of CA-MRSA infection, which requires accurate diagnosis, identification of site infection, appropriate antibiotic treatment, and surgical debridement.

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Wiskott-Aldrich syndrome: case presentation with molecular genetic analysis for clonality

Acta Paediatrica ◽

10.1111/j.1651-2227.1992.tb12294.x ◽

1992 ◽

Vol 81 (6-7) ◽

pp. 558-559

Author(s):

W Chlebcewicz-Szuba ◽

J Lubiński ◽

E Kamieńska ◽

A Krygier-Stojalowska

Keyword(s):

Genetic Analysis ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Case Presentation ◽

Wiskott Aldrich Syndrome

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Molecular Genetic Analysis of RB1 gene among Sudanese children with Retinoblastoma

10.1101/519306 ◽

2019 ◽

Cited By ~ 1

Author(s):

Nada O. Ibrahim ◽

Mahgoub Saleem ◽

Entesar Eltayeb ◽

Salwa Mekki ◽

Elteleb G. Elnaim ◽

...

Keyword(s):

Functional Analysis ◽

Genetic Analysis ◽

In Silico ◽

Molecular Genetic ◽

Geographical Area ◽

Good Prognosis ◽

Molecular Genetic Analysis ◽

Molecular Genetic Study ◽

Genetic Sequencing ◽

Life Threatening

BACKGROUNDRetinoblastoma (RB), the commonest early childhood intraocular tumor, is most often related to mutations in the RB1 gene with an incidence of 3% of all pediatric tumors. It has good prognosis if diagnosed early but it is life-threatening when diagnosed late.OBJECTIVETo study the Molecular Genetic Analysis of Retinoblastoma (RB) in Sudanese families.METHODSThirty one (n=31) clinically and histopathologically diagnosed cases of RB attending Makkah Eye Complex (MEC) Orbit clinic (Khartoum, Sudan) were included in this Molecular Genetic RB Analysis. Fresh blood samples extracted from seven RB patients and 15 close families for DNA extraction and PCR were sent for Genetic Sequencing and In silico approach for “Exon 18 mutations” which is one of the highly mutated exons worldwide.RESULTSThe majority of patients (41.9%) were below five years old. Females were 58.1%, males were 41.9%. Leukocoria was the commonest sign at presentation (41.9%). RB Unilaterality were in (77.4%) while Bilaterality in 19.4%. Both eyes were equally affected 50% each. The age at diagnosis time ranged from 0.02 to five years. Consanguinity of parents was very high (85.7%), the 1st degree cousins were less (28.6%) while the 2nd degree was high (57.1%). The patients’ ethnic background and geographical area were from seven different tribes; all belong to the Western Sudan. The molecular genetic study showed that exon 18 was free of mutation among the seven patients + their three relatives. The Functional Analysis and (SNPs) prediction study of exon 18 from NCBI data base showed that the various computational approaches used (SIFT, PolyPhen-2, I-mutant and Project hope) identified 16 reported mutations worldwide, three of which (rs137853292, rs375645171 and rs772068738) are major nsSNPs (non-synonymous) which might contribute to native RB1 protein malfunction and ultimately causing carcinoma.CONCLUSIONRB mainly affected children under five years and both sexes are equally affected. Unilaterality was predominant. Consanguinity plays a role in inheritance and the majority of patients were from Western Sudan. The most commonly detected deleterious mutations worldwide in exon 18 were not found in the Sudanese studies samples. Further screening for the highly reported mutations in exons 8, 10 and 14 or Next Generation Sequencing (NGS) are recommended. In silico tools are useful in studying the functional analysis of SNPs.

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