A case report of primary osteoporosis in a 7 year-old patient, with 3 genetic variants of increased risk: Management and treatment

Bone ◽  
2012 ◽  
Vol 50 ◽  
pp. S178-S179
Author(s):  
D. Tsiamasfirou⁎ ◽  
I. Christogiannis ◽  
N. Dris ◽  
T. Koromila ◽  
P. Kollia ◽  
...  
2020 ◽  
Vol 30 (3) ◽  
pp. 56-59
Author(s):  
Jūratė Gudaitytė ◽  
Justina Jermolajevaitė ◽  
Martynas Judickas

Background and objectives: Acromegaly is endocri­nal disorder which results in changes involving ge­neral appearance as well as upper airway abnorma­lities, cardiovascular and metabolic disorders which can aggravate the anesthesia and can lead to compli­cations. We aim to discuss the challenges for anesthe­siologist that occurs facing patient with acromegaly and are necessary to investigate before performing any kind of intervention. Case Presentation: 79 years old male patient presen­ted the hospital with recently diagnosed acromegaly for rectal prolapse surgery. From anamnesis he had NYHAIII with cardiomyopathy, atrial fibrillation and arterial hypertension, also multiple old compressive fractures Th10 – L5. He was graded with Mallam­pati score IV and ASA class IV. The complemen­tary examinations were made to assess the possible complications. In induction of general anesthesia the intubation was performed using fibro- bronchoscope and anesthesia went without complications except hypotension which was managed. After surgery the patient was leaded to the postoperative room for furt­her monitoring. Discussion and Conclusion: Acromegalic patients have an increased risk of difficulty during anesthe­sia compared to general population due to difficult intubation, cardiovascular complications , OSA , alte­ration in intraoperative glucose intolerance and fluid regulation. Therefore profound investigation and as­sessment are necessary to predict and prepare for possible difficulties in the surgery room.


Author(s):  
Maxim Kuzin ◽  
Franziskos Xepapadakos ◽  
Isabel Scharrer ◽  
Marc Augsburger ◽  
Chin‐Bin Eap ◽  
...  

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Natalie Martos ◽  
William Hall ◽  
Alicia Marhefka ◽  
Thomas W. Sedlak ◽  
Frederick C. Nucifora

Abstract Background Neutropenia, a decrease in total number of neutrophils below 1500/mm3 and particularly severe neutropenia, defined as neutrophils less than 500/mm3, is a potential adverse effect of antipsychotic medications that can lead to increased risk of infections and death. However, much of the attention on the potential adverse effect is centered exclusively on clozapine, which remains the only antipsychotic medication in the United States requiring standardized monitoring of blood work. We demonstrate here that paliperidone can also cause neutropenia and therefore clinicians should be aware of this possibility especially during initiation of treatment. Case presentation The following report presents the case of a 23-year-old African American male with first episode psychosis who developed neutropenia after initiation of paliperidone. Neutropenia resolved after discontinuation of paliperidone and initiation of an alternative antipsychotic, haloperidol. Conclusions This case report demonstrates an example of paliperidone induced neutropenia which resolved with a switch to haloperidol. We conclude that when initiating paliperidone, clinicians should be more aware of the risk of neutropenia. Moreover, neutropenia may be a more common and overlooked issue in patients on antipsychotic medications other than clozapine and increased awareness of comparative risk across antipsychotics could help direct treatment.


2021 ◽  
Vol 14 (5) ◽  
pp. 211
Author(s):  
Iryna Yanenkova ◽  
Yuliia Nehoda ◽  
Svetlana Drobyazko ◽  
Andrii Zavhorodnii ◽  
Lyudmyla Berezovska

This article deals with the issue of managing bank credit risk using a cost risk model. Modeling of bank credit risk management was proposed based on neural-cell technologies, which expand the possibilities of modeling complex objects and processes and provide high reliability of credit risk determination. The purpose of the article is to improve and develop methodical support and practical recommendations for reducing the level of risk based on the value-at-risk (VaR) methodology and its subsequent combination with methods of fuzzy programming and symbiotic methodical support. The model makes it possible to create decision support subsystems for nonperforming loan management based on the neuro-fuzzy approach. For this paper, economic and mathematical tools (based on the VaR methodology) were used, which made it possible to analyze and forecast the dynamics of overdue payment; assess the quality of the credit portfolio of the bank; determine possible trends in bank development. A scientific and practical approach is taken to assess and forecast the degree of credit problematicity by qualitative criteria using a mathematical model based on a fuzzy technology, which can forecast the increased risk of loan default at an early stage in the process of monitoring the loan portfolio and model forecasting changes in the degree of credit problematicity on change of indicators. A methodology is proposed for the analysis and forecasting of indicators of troubled loan debt, which should be implemented as software and included in the decision support system during the process of monitoring the risk of the bank’s credit portfolio.


2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Chun-Hsiang Lin ◽  
Oswald Ndi Nfor ◽  
Chien-Chang Ho ◽  
Shu-Yi Hsu ◽  
Disline Manli Tantoh ◽  
...  

Abstract Background Alcohol consumption is one of the modifiable risk factors for intracerebral hemorrhage, which accounts for approximately 10–20% of all strokes worldwide. We evaluated the association of stroke with genetic polymorphisms in the alcohol metabolizing genes, alcohol dehydrogenase 1B (ADH1B, rs1229984) and aldehyde dehydrogenase 2 (ALDH2, rs671) genes based on alcohol consumption. Methods Data were available for 19,500 Taiwan Biobank (TWB) participants. We used logistic regression models to test for associations between genetic variants and stroke. Overall, there were 890 individuals with ischemic stroke, 70 with hemorrhagic stroke, and 16,837 control individuals. Participants with ischemic but not hemorrhagic stroke were older than their control individuals (mean  ±  SE, 58.47 ± 8.17 vs. 48.33 ± 10.90 years, p  <  0.0001). ALDH2 rs671 was not associated with either hemorrhagic or ischemic stroke among alcohol drinkers. However, the risk of developing hemorrhagic stroke was significantly higher among ADH1B rs1229984 TC  +  CC individuals who drank alcohol (odds ratio (OR), 4.85; 95% confidence interval (CI) 1.92–12.21). We found that the test for interaction was significant for alcohol exposure and rs1229984 genotypes (p for interaction  =  0.016). Stratification by alcohol exposure and ADH1B rs1229984 genotypes showed that the risk of developing hemorrhagic stroke remained significantly higher among alcohol drinkers with TC  +  CC genotype relative to those with the TT genotype (OR, 4.43, 95% CI 1.19–16.52). Conclusions Our study suggests that the ADH1B rs1229984 TC  +  CC genotype and alcohol exposure of at least 150 ml/week may increase the risk of developing hemorrhagic stroke among Taiwanese adults.


2021 ◽  
Author(s):  
Brannon L Inman ◽  
Rachel E Bridwell ◽  
Amber Cibrario ◽  
Sarah Goss ◽  
Joshua J Oliver

ABSTRACT Breath-hold diving is a common practice as a part of military dive training. An association between prior lung injury and a propensity for lung barotrauma may have the potential to impact mission readiness for combat divers, Pararescue, Combat Controllers, Army Engineer divers, and various units in Naval Special Warfare and Special Operations. Barotrauma is a common complication of diving, typically occurring at depths greater than 30 m (98.4 ft). Individuals with abnormal lung anatomy or function may be at increased risk of barotrauma at shallower depths than those with healthy lungs, rendering these service members unfit for certain missions. We describe the case of a 25-year-old male, with a remote history of polytrauma and resultant pulmonary pleural adhesions, whose dive training was complicated by lung barotrauma at shallow depths. In missions or training utilizing breath-hold diving, the association with secondary alterations in lung or thoracic anatomy and function may limit which service members can safely participate.


2021 ◽  
pp. 1-4
Author(s):  
Josef Jackson ◽  
Eumenia Castro ◽  
Michael A. Belfort ◽  
Alireza A. Shamsirshaz ◽  
Ahmed A. Nassr ◽  
...  

Umbilical vein varices are rare umbilical cord anomalies that typically occur intra-abdominally. Extra-abdominal umbilical vein varices are exceedingly rare and usually diagnosed postnatally on gross pathologic examination. Umbilical vein varices have been associated with increased risk of fetal anemia, cardiac abnormalities, and intrauterine fetal demise. This case report discusses a patient who presented with a massive extra-abdominal umbilical vein varix, whose infant was ultimately delivered due to fetal distress and died in the neonatal period. This report also discusses associated fetal conditions and guidelines for antenatal testing and surveillance of known umbilical vein varices.


2007 ◽  
Vol 121 (12) ◽  
Author(s):  
S Mylvaganam ◽  
C G L Hobbs

AbstractObjective:We report a case of post-partum surgical cervical emphysema, which is a rare but well recognised complication of labour. By reporting the first case in the ENT literature, we aim to raise awareness of this complication, particularly amongst trainees, to ensure that patients are managed most appropriately.Case report:A 36-year-old, primigravida woman developed neck swelling and odynophagia post-partum. Surgical cervical emphysema was palpated, with further examination excluding pneumomediastinum and pneumothorax. The patient was managed conservatively, with complete resolution of symptoms within a week.Conclusions:Surgical cervical emphysema, pneumothorax and pneumomediastinum are all well recognised post-partum complications. The vast majority of cases do not present with respiratory or cardiac compromise and can be appropriately managed conservatively, with expectation of resolution in a fortnight. There is no evidence that such patients are at increased risk during subsequent pregnancies.


Cephalalgia ◽  
2016 ◽  
Vol 36 (11) ◽  
pp. 1028-1037 ◽  
Author(s):  
Jong-Ling Fuh ◽  
Ming-Yi Chung ◽  
Shu-Chih Yao ◽  
Ping-Kun Chen ◽  
Yi-Chu Liao ◽  
...  

Objective Several genetic variants have been found to increase the risk of restless legs syndrome (RLS). The aim of the present study was to determine if these genetic variants were also associated with the comorbidity of RLS and migraine in patients. Methods Thirteen single-nucleotide polymorphisms (SNPs) at six RLS risk loci ( MEIS1, BTBD9, MAP2K5, PTPRD, TOX3, and an intergenic region on chromosome 2p14) were genotyped in 211 migraine patients with RLS and 781 migraine patients without RLS. Association analyses were performed for the overall cohort, as well as for the subgroups of patients who experienced migraines with and without aura and episodic migraines (EMs) vs. chronic migraines (CMs). In order to verify which genetic markers were potentially related to the incidence of RLS in migraine patients, multivariate regression analyses were also performed. Results Among the six tested loci, only MEIS1 was significantly associated with RLS. The most significant SNP of MEIS1, rs2300478, increased the risk of RLS by 1.42-fold in the overall cohort ( p = 0.0047). In the subgroup analyses, MEIS1 augmented the risk of RLS only in the patients who experienced EMs (odds ratio (OR) = 1.99, p = 0.0004) and not those experiencing CMs. Multivariate regression analyses further showed that rs2300478 in MEIS1 (OR = 1.39, p = 0.018), a CM diagnosis (OR = 1.52, p = 0.022), and depression (OR = 1.86, p = 0.005) were independent predictors of RLS in migraine. Conclusions MEIS1 variants were associated with an increased risk of RLS in migraine patients. It is possible that an imbalance in iron homeostasis and the dopaminergic system may represent a link between RLS incidence and migraines.


PEDIATRICS ◽  
1974 ◽  
Vol 54 (4) ◽  
pp. 438-441
Author(s):  
Gerald Erenberg ◽  
Steven S. Rinsler ◽  
Bernard G. Fish

Four cases of lead neuropathy in children with hemoglobin S-S or S-C disease are reported. Neuropathy is a rare manifestation of lead poisoning in children, and only ten other cases have been well documented in the pediatric literature. The last previous case report of lead neuropathy was also in a child with hemoglobin S-S disease. The neuropathy seen in the children with sickle cell disease was clinically similar to that seen in the previously reported cases in nonsicklers, but differed in both groups from that usually seen in adult cases. It is, therefore, postulated that children with sickle cell disease have an increased risk of developing neuropathy with exposure to lead. The exact mechanism for this association remains unknown, but in children with sickle cell disease presenting with symptoms or signs of peripheral weakness, the possibility of lead poisoning must be considered.


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