scholarly journals Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Jumpei Kuroda ◽  
Ryoko Harada ◽  
Riku Hamada ◽  
Yusuke Okuda ◽  
Yasuhiro Yoshida ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Type I ◽  
Loading Test ◽  
New Mutation ◽  
Lower Extremity Weakness ◽  
Case Presentation ◽  
Abnormal Gait ◽  
Typical Type ◽  
The Difference ◽  
Clear Increase

Abstract Background In typical cases of Bartter syndrome (BS), assessing response to diuretics (furosemide and thiazide), hereinafter referred to as diuretic loading test, may be used to diagnose the type by detecting which part of the kidney tubule is not functioning correctly. However, the diuretic loading test may not always agree with the results of genetic analyses. Case presentation A 5-year-old boy was admitted due to lower extremity weakness and abnormal gait. He had a recurrent episode of muscle weakness and laboratory results showed severe hypokalemia. The direct genomic sequencing of the case revealed a new mutation in the SLC12A1 gene, which is associated with type I Bartter syndrome. Because there was the difference between the phenotype and genotype, we conducted a diuretic loading test to confirm the diagnosis. However, the results showed a clear increase in urine excretion of Na and Cl. These results were not consistent with typical type I BS, but consistent with the patient’s phenotype. Conclusion The diuretic loading test has limited utility for diagnosis especially in atypical cases. On the other hand, this test, which allows assessment of channel function, is useful for better understanding of the genotype-phenotype correlation.

scholarly journals Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Cristina Collazo Abal ◽  
Susana Romero Santos ◽  
Carmen González Mao ◽  
Emilio C. Pazos Lago ◽  
Francisco Barros Angueira ◽  
...  
Keyword(s):  
Aldehyde Oxidase ◽  
Renal Calculi ◽  
Xanthine Dehydrogenase ◽  
Type I ◽  
Dietary Recommendations ◽  
New Mutation ◽  
Case Presentation ◽  
Hereditary Xanthinuria ◽  
Urine Levels ◽  
Made In

Abstract Objectives Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II. Case presentation We describe a novel point mutation in the XDH gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging. Additional cases were found in his family and dietary recommendations were made in order to prevent further complications. Conclusions Hereditary xanthinuria is an underdiagnosed pathology, often found in a routine analysis that shows hypouricemia. It is important for Laboratory Medicine to acknowledge how to guide clinicians in the diagnosis.

scholarly journals EVIDENCE THAT TWO LOCI PREDOMINANTLY DETERMINE THE DIFFERENCE IN SUSCEPTIBILITY TO THE HIGH PRESSURE NEUROLOGIC SYNDROME TYPE I SEIZURE IN MICE

Genetics ◽  
1981 ◽  
Vol 99 (2) ◽  
pp. 285-307
Author(s):  
R D McCall ◽  
D Frierson
Keyword(s):  
High Pressure ◽  
Inbred Mouse ◽  
Inbred Strains ◽  
Chromosome 17 ◽  
Seizure Threshold ◽  
Mouse Strains ◽  
Compression Rate ◽  
Type I ◽  
Major Locus ◽  
The Difference

ABSTRACT Most mammals tested, when exposed to increasing pressure in helium/oxygen atmospheres, exhibit progressive motor disturbances culminating in two, usually successive, well-differentiated convulsive seizures. The seizures are highly reproducible components of the constellation of events that collectively constitute the High Pressure Neurologic Syndrome (HPNS). In the present study, we present evidence that the mean difference in seizure threshold pressures of the first seizure to occur (HPNS Type I) between inbred mouse strains DBA/2J and C57BL/6J is predominantly determined (> 60%) by the expression of a major locus—possibly linked to the H-2 locus on chromosome 17—and a minor locus, probably unlinked. This outcome is derived from applications of the maximum likelihood modeling procedure of Elston and Stewart (1973) and Stewart and Elston (1973) to eleven models of genetic determinacy and tests (including breeding tests) of "preferred" models so derived using BXD recombinant inbred strains that show the following: The major locus exhibits conditional dominance characteristics depending upon compression rate and minor locus genotype. At a constant mean compression rate of 100 atm hr-1, the major locus manifests strong, though incomplete, dominance apparently independent of minor locus genotype. Its expression is, however, highly sensitive to compression rate, losing its dominance altogether at a linear rate of 1,000 atm hr-1. The major locus interacts with the weakly dominant and relatively compression-rate-insensitive minor locus to retain dominance at fast compression only when the dominant alleles of both loci are present. A principal finding of this study is that employing two compression rates permits fuller genetic characterization of murine high-pressure seizure susceptibility differences than could be achieved by use of a single compression rate.

scholarly journals Fibromuscular dysplasia with recurrence after “long-term” following percutaneous transcatheter renal angioplasty: two case reports with a review of 26 patients

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Shuntaro Oribe ◽  
Takafumi Toyohara ◽  
Eikan Mishima ◽  
Takehiro Suzuki ◽  
Koichi Kikuchi ◽  
...  
Keyword(s):  
Fibromuscular Dysplasia ◽  
Age Of Onset ◽  
Case Reports ◽  
Case Presentation ◽  
Renal Angioplasty ◽  
Long Term Follow Up ◽  
Percutaneous Transluminal Renal Angioplasty ◽  
The Difference

Abstract Background Fibromuscular dysplasia (FMD) often causes renal artery stenosis with renovascular hypertension. Recent clinical outcomes encourage percutaneous transluminal renal angioplasty (PTRA) to treat FMD; however, the necessary follow-up period remains unclear. Moreover, previous studies have not revealed the difference in the period until recurrence between two major types of FMD—multifocal and focal. Case presentation We describe two patients with multifocal FMD who developed hypertension during their teenage years and had recurrence of FMD > 10 years after PTRA. We further examined the types of FMD and age of onset in 26 patients who underwent PTRA. The period until recurrence of multifocal FMD was longer than that of focal FMD. Moreover, patients with early-onset multifocal FMD are likely to have a delayed recurrence after PTRA compared to other types. Conclusions Our report suggests that patients with multifocal FMD, especially those with onset at an early age, may need long-term follow-up for at least ≥ 10 years.

Characterization of specific insulin-like growth factor (IGF)-I and IGF-II receptors on cultured rabbit articular chondrocyte membranes

1989 ◽  
Vol 120 (2) ◽  
pp. 245-249 ◽  
Author(s):  
J. Jansen ◽  
S. C. van Buul-Offers ◽  
C. M. Hoogerbrugge ◽  
T. L. de Poorter ◽  
M. T. Corvol ◽  
...  
Keyword(s):  
Growth Factor ◽  
Type I ◽  
Insulin Like Growth Factor ◽  
Articular Chondrocyte ◽  
Reducing Conditions ◽  
Receptor Sites ◽  
Igf I ◽  
Typical Type ◽  
Liver Membranes ◽  
Placental Membranes

ABSTRACT The interaction of insulin-like growth factor (IGF)-I and IGF-II with specific type-I and -II receptor sites on rabbit articular chondrocyte membranes was studied. With labelled IGF-I as tracer, half-maximal displacement of the label was obtained with 1·4 ng IGF-I/ml and 22 ng IGF-II/ml. Using IGF-II as labelled peptide, 16 ng unlabelled IGF-II/ml and 200 ng IGF-I/ml were needed to inhibit the binding by 50%. Covalent cross-linking experiments revealed the presence of typical type-I (Mr 130 000 under reducing conditions) and type-II (Mr 260 000) receptor sites. In addition, with 125I-labelled IGF-II a very intense labelled band appeared at Mr > 300 000. This band was not found in mouse liver membranes and human placental membranes. Journal of Endocrinology (1989) 120, 245–249

scholarly journals Long-term follow-up of patients with Bartter syndrome type I and II

2010 ◽  
Vol 25 (9) ◽  
pp. 2976-2981 ◽  
Author(s):  
E. Puricelli ◽  
A. Bettinelli ◽  
N. Borsa ◽  
F. Sironi ◽  
C. Mattiello ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Long Term Follow Up

scholarly journals Strengthening Effect of the External Prestressing Method That Simulated a Deterioration Bridge

2021 ◽  
Vol 11 (6) ◽  
pp. 2553
Author(s):  
Sang-Hyun Kim ◽  
Jong-Sup Park ◽  
Woo-Tai Jung ◽  
Jae-Yoon Kang
Keyword(s):  
Compressive Strength ◽  
Strengthening Effect ◽  
Reinforcement Effect ◽  
Loading Test ◽  
Yield Load ◽  
Existing Structures ◽  
External Prestressing ◽  
The Difference ◽  
Existing Structure ◽  
Strengthening Method

Various methods for strengthening existing structures have been developed owing to the increase in human and property damages caused by the deterioration of structures. Among the various reinforcing methods, the external prestressing method increases the usability and safety of a structure by directly applying tension to the weak tensile area that suffers the greatest deflection during the structure usage. The external prestressing method is advantageous in reducing cracks caused by the introduced tension and restoration of the deflection. Since the strengthening method is applied to deterioration bridges, the strengthening effect is affected by the condition of the existing structure. However, studies on the strengthening effect according to the degree of deterioration are insufficient. Therefore, the behavior according to the strengthening status was analyzed, and the strengthening effect was identified in this study by simulating the deteriorated bridge, reducing the compressive strength and reinforcement quantity, and conducting a four-point loading test. As a result of the experiment, a reinforcement effect of 215% crack load, 161% yield load, and the difference in behavior according to the reinforcement parameters were confirmed.

scholarly journals Synchronous NET and colorectal cancer development: a case report

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Shinsei Yumoto ◽  
Yuji Miyamoto ◽  
Takahiko Akiyama ◽  
Yuki Kiyozumi ◽  
Kojiro Eto ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Colon Cancer ◽  
Systemic Therapy ◽  
Multiple Organ ◽  
Cancer Development ◽  
Sigmoid Colon Cancer ◽  
Synchronous Tumors ◽  
Case Presentation ◽  
The Difference ◽  
Rectal Neuroendocrine Tumor

Abstract Background The incidence of synchronous gastrointestinal neuroendocrine tumors (GI-NETs) and colorectal cancer is very low. Case presentation We present a 72-year-old man diagnosed with a rectal neuroendocrine tumor (NET) with multiple organ metastases and simultaneous sigmoid colon cancer. Although the NET was his prognostic factor, he underwent a laparoscopic sigmoidectomy at first because it was expected that the colon cancer would cause obstruction or bleeding during NET treatment. Subsequently, he started taking everolimus. Conclusions We should consider surgical resection of the synchronous cancer before systemic therapy for a GI-NET regardless of the difference in prognosis between synchronous tumors, if the cancer may impair the continuation of systemic therapy.

Cardiac and Respiratory Arrest in a 12-Year-Old Girl with Acute Permethrin Toxicity: A Case Report

2021 ◽  
Author(s):  
Hesam Adin Atashi ◽  
Hamid Zaferani Arani ◽  
Seyyed Mojtaba Ghorani ◽  
Mahya Sadat Teimouri Khorasani ◽  
Masoumeh Moalem
Keyword(s):  
Case Report ◽  
Brain Damage ◽  
Respiratory Arrest ◽  
Spontaneous Circulation ◽  
Type I ◽  
Medical Problems ◽  
Present Case Report ◽  
Case Presentation ◽  
Hypoxic Brain Damage ◽  
Hypoxic Brain

Abstract Background: Permethrin (PER) is widely employed as the most frequently used type I synthetic pyrethroid insecticide. Despite its worldwide application, reports of pediatric toxicity following permethrin administration are scarce.Case presentation: The present case report involves a 12-year-old Afghan girl, with no previous medical problems, who drank an unknown insecticide covertly at home. Two hours after ingestion, she was taken to the emergency room with neither breathing signs nor a heartbeat. She was immediately transferred to the cardiopulmonary resuscitation (CPR) room, and her spontaneous circulation was returned after a few minutes of CPR. She was then intubated, volume resuscitated with intravenous normal saline, and connected to the mechanical ventilator after being transferred to the ICU ward. The patient remained comatose without spontaneous breathing, her pupils became bilateral mydriasis, and central diabetes insipidus became evident after three days due to apnea and hypoxic brain damage following insecticide ingestion. The chemical analysis of the insecticide bottle showed 10% permethrin without organophosphates, as initially expected. Unfortunately, after seven days, the patient passed away due to resistant hypotension and severe brain damage.Conclusion: Permethrin is widely used globally as an insecticide. However, there are many unmet needs in permethrin toxicity treatment, and the treatment is mainly supportive. Depending on the amount and dose of permethrin, the most common symptoms can vary from headache, dyspnea, and vomiting to metabolic acidosis and cardiac and respiratory arrest, which can lead to hypoxic brain damage and death, as was the outcome in our case.

Biomechanical comparison of the Lim/Tsai tendon repair with a modified method using a single looped suture

2017 ◽  
Vol 42 (9) ◽  
pp. 915-919 ◽  
Author(s):  
Min Kai Chang ◽  
Yoke Rung Wong ◽  
Shian Chao Tay
Keyword(s):  
Tensile Strength ◽  
Ultimate Tensile Strength ◽  
Mechanical Performance ◽  
Tendon Repair ◽  
Original Method ◽  
Flexor Digitorum Profundus ◽  
Loading Test ◽  
Modified Method ◽  
Cycle Loading ◽  
The Difference

The Lim/Tsai tendon repair technique has been modified clinically to achieve a 6-strand repair using a single looped suture with one extratendinous knot. We compared biomechanical performance of the original and modified methods using 20 porcine flexor digitorum profundus tendons. The ultimate tensile strength, load to 2 mm gap force, mode of failure, and time taken to repair each tendon were recorded during a single cycle loading test in 10 tendons with each repair method. We found that despite having the same number of core strands, the single looped suture modified Lim/Tsai technique possessed significantly greater ultimate tensile strength and load to 2 mm gap force. Also, less repair time was required. We conclude that the modified 6-strand repair using a single looped suture has better mechanical performance than the original method. The difference likely was due to the changes in locations of the knots and subsequent load distribution during tendon loading.

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