More to Be Learned From Crigler-Najjar Patients

PEDIATRICS ◽  
1993 ◽  
Vol 92 (1) ◽  
pp. 184-184
Author(s):  
THOR WILLY RUUD HANSEN
Keyword(s):  
Case Reports ◽  
Type I ◽  
Total Body

To the Editor.— In a recent study by Galbraith et al,1 the use of tin-mesoporphyrin in two patients with the Crigler-Najjar type I syndrome is described. The feasibility of this kind of treatment is documented, and the authors' comments on the size of the total-body bilirubin pool as well as their calculations on bilirubin production and clearance in these patients are illuminating. Personally, I am intrigued as much by aspects of the case reports, about which the authors do not comment, probably because these aspects are outside the focus of their paper.

More to be Learned from Crigler-Najjar Patients

PEDIATRICS ◽  
1992 ◽  
Vol 89 (6) ◽  
pp. 1268-1269
Author(s):  
THOR WILLY RUUD HANSEN
Keyword(s):  
Case Reports ◽  
Type I ◽  
Total Body

To the Editor.— In a recent study by Galbraith et al,1the use of tin-mesopor-phyrin in two patients with the Crigler-Najjar type I syndrome is described. The feasibility of this kind of treatment is documented, and their comments on the size of the total-body bilirubin pool as well as their calculations on bilirubin production and clearance in these patients are very interesting and illuminating. However, I am personally as much intrigued by aspects of the case reports, about which the authors do not comment, probably because it is outside the focus of their paper.

Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome

2021 ◽  
pp. 1-7
Author(s):  
Paul Schmidle ◽  
Jana Mehlich ◽  
Knut Brockow ◽  
Ulf Darsow ◽  
Tilo Biedermann ◽  
...  
Keyword(s):  
Case Reports ◽  
Meat Products ◽  
Live Vaccine ◽  
Basophil Activation ◽  
Type I ◽  
Mmr Vaccine ◽  
Varicella Zoster ◽  
Additional Tool ◽  
Severe Anaphylaxis ◽  
New Type

Background: The alpha-gal syndrome (AGS) describes a new type I allergy entity to the carbohydrate epitope galactose-α-1,3-galactose (alpha-gal), which is mainly found in mammalian food products (e.g., beef, pork, and venison). Apart from meat products, alpha-gal can also be found in products containing gelatin of bovine or porcine origin. Recent case reports pointed to severe anaphylaxis in patients suffering from AGS after vaccination with vaccines containing hydrolyzed gelatin. It was the objective of this study to evaluate if basophil activation tests (BATs) performed with such vaccines were positive in patients with AGS. Methods: BAT was performed with different dilutions of a gelatin-containing measles, mumps, and rubella (MMR) live vaccine; an attenuated varicella (V) vaccine; an attenuated V-zoster (VZ) vaccine; a MMR live vaccine not containing gelatin (non-gelatin MMR vaccine) in 2 patients with confirmed AGS, 2 patients highly suspicious for AGS, and 2 healthy individuals without any previous medical history for allergies. Results: All patients showed strongly positive results for all gelatin-containing vaccines (MMR vaccine, V vaccine, and VZ vaccine). Non-gelatin MMR vaccine was negative. The 2 healthy controls did not show any basophil activation. Conclusions: Gelatin-containing vaccines should be administered with caution or avoided in patients with AGS because of their high potential to activate basophils indicating a risk for anaphylaxis. Also, BAT is a useful additional tool when it comes to screening for potentially high-risk alpha-gal-containing drugs.

scholarly journals Management of Amelogenesis Imperfecta in Childhood: Two Case Reports

2021 ◽  
Vol 18 (13) ◽  
pp. 7204
Author(s):  
Mirja Möhn ◽  
Julia Camilla Bulski ◽  
Norbert Krämer ◽  
Alexander Rahman ◽  
Nelly Schulz-Weidner
Keyword(s):  
Case Reports ◽  
Treatment Options ◽  
Permanent Dentition ◽  
Amelogenesis Imperfecta ◽  
Structural Defects ◽  
Type I ◽  
Oral Rehabilitation ◽  
Self Confidence ◽  
Health Quality ◽  
Masticatory System

Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an unaesthetic appearance, various treatment options are described. While restoration with a compomer in the anterior region and stainless steel crowns in the posterior region is recommended for deciduous dentition, the challenges when treating such structural defects in mixed or permanent dentition are changing teeth and growing jaw, allowing only temporary restoration. The purpose of this case report is to demonstrate oral rehabilitation from mixed to permanent dentition. The dentition of a 7-year-old patient with AI type I and a 12-year-old patient with AI type II was restored under general anesthesia to improve their poor aesthetics and increase vertical dimension, which are related to problems with self-confidence and reduced oral health quality of life. These two cases show the complexity of dental care for structural anomalies of genetic origin and the challenges in rehabilitating the different phases of dentition.

scholarly journals Treatment of Syringomyelia Associated with Chiari malformation (Type I), FMD was effective-2 Case Reports-

2004 ◽  
Vol 53 (1) ◽  
pp. 80-84
Author(s):  
Takashi Inokuchi ◽  
Hironobu Akune ◽  
Toshio Tokuhisa ◽  
Masakazu Kouzuma ◽  
Hideki Ota
Keyword(s):  
Chiari Malformation ◽  
Case Reports ◽  
Type I ◽  
Chiari Malformation Type I

Close Reduction Percutaneous Pinning (CRPP) versus Open Reduction Internal Fixation (ORIF) for Pediatric Supracondylar Humerus Fractures Gartland Type II and III: A Systematic Review and Meta-analysis

2021 ◽  
Vol 71 (4) ◽  
pp. 187-193
Author(s):  
Putu Astawa ◽  
Made Agus Maharjana ◽  
Surya Adisthanaya ◽  
Made Winatra Satya Putra ◽  
Agus Suarjaya Putra ◽  
...  
Keyword(s):  
Systematic Review ◽  
Case Reports ◽  
Meta Analysis ◽  
Fixed Effect Model ◽  
Cosmetic Outcome ◽  
Type I ◽  
Type Ii ◽  
Supracondylar Humerus Fractures ◽  
Significant Difference ◽  
Humerus Fractures

Introduction: Displaced supracondylar fracture in children is a challenging injury that may result in impaired functional and cosmetic outcome if not well-treated. Utilization of Closed Reduction and Percutaneus Pinning (CRPP) increased for this pathology, some authors believe ORIF results better anatomical reduction and lower rate of loss of reduction. Study aims to compare CRPP and ORIF for pediatric supracondylar humerus fracture. Method: Systematic review was conducted based on PRISMA guideline. Inclusion criteria were age <18 years old, comparing CRPP and ORIF for Supracondylar Humerus Fractures Gartland Type II, II.Studies of one surgical technique, Gartland type I, case reports were excluded. For meta-analysis, 6 studies were included and fixed effect model used to pool the result. In each study, mean difference (MD) with 95% confidence interval (CI) was calculated for dichotomous outcomes using Review Manager. Result: Total of 252 patients aged 0-15 years old were included. CRPP more often performed than ORIF. Satisfactory outcomes measured by Flynn’s criteria were achieved in 87.74% in CRPP and 86.73% in ORIF patient group, indicating significant difference (Heterogeneity, I2 = 23%; WMD, 1.26; 0.58 to 2.73; P =0.56). Conclusion: Current systematic review and meta-analysis suggest that for displaced supracondylar humerus fractures, ORIF offers a comparable functional and cosmetic outcome compared to CRPP.

Youssef syndrome with a summary of management options

2021 ◽  
Vol 14 (8) ◽  
pp. e244247
Author(s):  
Anupama Bahadur ◽  
Anoosha K Ravi ◽  
Megha Ajmani ◽  
Rajlaxmi Mundhra
Keyword(s):  
Case Reports ◽  
Therapeutic Options ◽  
Urinary Continence ◽  
Type I ◽  
Ct Urography ◽  
Lower Segment ◽  
Management Options ◽  
Urogenital Fistula ◽  
Diagnostic Modalities ◽  
Youssef Syndrome

Vesicouterine fistula is one of the rare varieties of urogenital fistula. Type I urogenital fistula or Youssef syndrome is characterised by menouria, amenorrhoea and urinary continence and it mostly follows lower segment caesarean delivery. There are only scattered case reports to help guide diagnostic and therapeutic options for this condition. These patients mostly need a combination of diagnostic modalities to confirm the diagnosis. Here, we present one such case of para 4 live 4 with classical symptoms of Youssef syndrome following a laparotomy for uterine rupture repair. CT urography confirmed the diagnosis and cystoscopy helped localise the exact location. Transabdominal fistula excision and repair was done. The paper also presents a summary of diagnostic and therapeutic options for this condition as reported in previous case reports for easy reference for practising gynaecologists and urologists.

scholarly journals Myasthenia Gravis following Low-Osmolality Iodinated Contrast Media

2014 ◽  
Vol 2014 ◽  
pp. 1-2 ◽  
Author(s):  
Luca Bonanni ◽  
Michele Dalla Vestra ◽  
Andrea Zancanaro ◽  
Fabio Presotto
Keyword(s):  
Contrast Media ◽  
Myasthenia Gravis ◽  
Case Reports ◽  
Orotracheal Intubation ◽  
Myasthenic Crisis ◽  
Iodinate Contrast Agent ◽  
Iodinated Contrast ◽  
History Of ◽  
Total Body ◽  
Progressive Dysphagia

We describe the case of 79-year-old man admitted to our general hospital for a 6-week history of progressive dysphagia to solids and liquids associated with weight loss. To reach a diagnosis a total body CT scan with low-osmolality iodinate contrast agent was performed. Two hours later the patient developed an acute respiratory failure requiring orotracheal intubation and mechanical ventilation. The laboratory and neurological tests allow formulating the diagnosis of myasthenia gravis. In literature, other three case reports have associated myasthenic crisis with exposure to low-osmolality contrast media. This suggests being careful in administering low-osmolality contrast media in myasthenic patients.

scholarly journals The Adipose Renin-Angiotensin System Modulates Systemic Markers of Insulin Sensitivity and Activates the Intrarenal Renin-Angiotensin System

2006 ◽  
Vol 2006 ◽  
pp. 1-6 ◽  
Author(s):  
Suyeon Kim ◽  
Morvarid Soltani-Bejnood ◽  
Annie Quignard-Boulange ◽  
Florence Massiera ◽  
Michele Teboul ◽  
...  
Keyword(s):  
Adipose Tissue ◽  
Renin Angiotensin System ◽  
Total Body Weight ◽  
Receptor Protein ◽  
Type I ◽  
Angiotensin System ◽  
Renin Angiotensin ◽  
Protein Levels ◽  
Total Body ◽  
Plasma Leptin

Background. The adipose tissue renin-angiotensin system (RAS) contributes to regulation of fat mass and may also impact systemic functions such as blood pressure and metabolism.Methods and results. A panel of mouse models including mice lacking angiotensinogen,Agt(Agt-KO), mice expressingAgtsolely in adipose tissue (aP2-Agt/Agt-KO), and mice overexpressingAgtin adipose tissue (aP2-Agt) was studied. Total body weight, epididymal fat pad weight, and circulating levels of leptin, insulin, and resistin were significantly decreased inAgt-KO mice, while plasma adiponectin levels were increased. aP2-Agtmice exhibited increased adiposity and plasma leptin and insulin levels compared to wild type (WT) controls. Angiotensinogen and type I Ang II receptor protein levels were also elevated in kidney of aP2-Agtmice.Conclusion. These findings demonstrate that alterations in adipose RAS activity significantly impact both local and systemic physiology in a way that may contribute to the detrimental health effects of obesity.

Malignant melanoma followed by the development of type I diabetes and thyroid dysfunction caused by immune checkpoint inhibitors : Two case reports

Skin Cancer ◽  
2018 ◽  
Vol 33 (1) ◽  
pp. 22-29
Author(s):  
Aya TAKAHASHI ◽  
Masato AMAKATA ◽  
Yoshiki SATO ◽  
Megumi YOKOYAMA ◽  
Kaduhisa HIRAHARA ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitors ◽  
Thyroid Dysfunction ◽  
Checkpoint Inhibitors ◽  
Type I Diabetes ◽  
Case Reports ◽  
Type I

Familial Chiari malformation: case series

2011 ◽  
Vol 31 (3) ◽  
pp. E1 ◽  
Author(s):  
Benjamin D. Schanker ◽  
Brian P. Walcott ◽  
Brian V. Nahed ◽  
Kristopher T. Kahle ◽  
Yan Michael Li ◽  
...  
Keyword(s):  
Chiari Malformation ◽  
Familial Aggregation ◽  
Association Studies ◽  
Case Reports ◽  
Case Series ◽  
Twin Studies ◽  
Type I ◽  
Genome Wide Association Studies ◽  
Chiari Malformation Type I ◽  
Genome Wide

Chiari malformations (Types I–IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%–0.5%. Case reports of familial aggregation of Chiari malformation, twin studies, cosegregation of Chiari malformation with known genetic conditions, and recent gene and genome-wide association studies provide strong evidence of the genetic underpinnings of familial Chiari malformation. The authors report on a series of 3 family pairs with Chiari malformation Type I: 2 mother-daughter pairs and 1 father-daughter pair. The specific genetic causes of familial Chiari malformation have yet to be fully elucidated. The authors review the literature and discuss several candidate genes. Recent advances in the understanding of the genetic influences and pathogenesis of familial Chiari malformation are expected to improve management of affected patients and monitoring of at-risk family members.

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