Peripheral Nerve Involvement in Cutaneous Leishmaniasis (Old World)

A review of 288 skin biopsy specimens from cutaneous leishmaniasis lesions caused by Leishmania major showed assorted nerve changes in 14 biopsy specimens (5%). Ten patients had perineural inflammatory cell infiltrate consisting of either lymphocytes or a mixture of lymphocytes, plasma cells, and macrophages. Four patients had inflammatory cell invasion of the nerves (neuritis), and in one of them the inflammation was granulomatous and associated with nerve destruction. Amastigotes were seen inside the nerves in two patients. Sensory testing of 50 consecutive patients with cutaneous leishmaniasis identified two patients with diminished sensations over the lesions.     

Patients’ perceived purpose of clinical informed consent: Mill’s individual autonomy model is preferred

Background

Although informed consent is an integral part of clinical practice, its current doctrine remains mostly a matter of law and mainstream ethics rather than empirical research. There are scarce empirical data on patients’ perceived purpose of informed consent, which may include administrative routine/courtesy gesture, simple honest permission, informed permission, patient-clinician shared decision-making, and enabling patient’s self decision-making. Different purposes require different processes.

Methods

We surveyed 488 adults who were planning to undergo or had recently undergone written informed consent-requiring procedures. Perceptions of informed consent purpose (from norm and current practice perspectives) were explored by asking respondents to rank (1?=?most reflective) 10 randomly-presented statements: “meaningless routine”, “courtesy gesture” “litigation protection”, “take away compensation rights”, “inform patient’, “make sure patient understand”, “document patient’s decision”, “discover patient’s preferences”, “have shared decision”, and “help patient decide”.

Results

Respondents’ mean (SD) age was 38.3 (12.5); 50.4% were males, 56.8% had?≥?college education, and 37.3% had undergone a procedure. From the norm perspective, the least reflective statement was “meaningless routine” (ranked 1–3 by 2.6% of respondents) and the most reflective statements were “help patient decide”, “make sure patient understand”, and “inform patient” (ranked 1–3 by 65%, 60%, and 48% of respondents with median [25%,75%] ranking scores of 2 [1,5], 3 [2,4], and 4 [2,5], respectively). Compared to their counterparts, males and pre-procedure respondents ranked “help patient decide” better, whereas females and post-procedure respondents ranked “inform patient” better (p?=?0.007 to p?<?0.001). Age was associated with better ranking of “help patient decide” and “make sure patient understand” statements (p?<?0.001 and p?=?0.002, respectively), which were ranked 1–3 by only 46% and 42% of respondents from the current practice perspective (median ranking score 4 [2,6], p?<?0.001 vs. norm perspective for both).

Conclusions

1) the informed consent process is important to patients, however, patients vary in their views of its purpose with the dominant view being enabling patients’ self decision-making, 2) males, pre-procedure, and older patients more favor a self decision-making purpose, whereas females and post-procedure patients more favor an information disclosure purpose, and 3) more self decision-making and more effective information disclosure than is currently practiced are desired. An informed consent process consistent with Mill’s individual autonomy model may be suitable for most patients.     

Mutation prevalence tables for hereditary cancer derived from multigene panel testing

Multigene panel testing for cancer predisposition mutations is becoming routine in clinical care. However, the gene content of panels offered by testing laboratories vary significantly, and data on mutation detection rates by gene and by the panel is limited, causing confusion among clinicians on which test to order. Using results from 147,994 multigene panel tests conducted at Ambry Genetics, we built an interactive prevalence tool to explore how differences in ethnicity, age of onset, and personal and family history of different cancers affect the prevalence of pathogenic mutations in 31 cancer predisposition genes, across various clinically available hereditary cancer gene panels. Over 13,000 mutation carriers were identified in this high‐risk population. Most were non‐Hispanic white (74%, n = 109,537), but also Black (n = 10,875), Ashkenazi Jewish (n = 10,464), Hispanic (n = 10,028), and Asian (n = 7,090). The most prevalent cancer types were breast (50%), ovarian (6.6%), and colorectal (4.7%), which is expected based on genetic testing guidelines and clinician referral for testing. The Hereditary Cancer Multi‐Gene Panel Prevalence Tool presented here can be used to provide insight into the prevalence of mutations on a per‐gene and per‐multigene panel basis, while conditioning on multiple custom phenotypic variables to include race and cancer type.     

Urine culture collected from gel-based diapers: developing a novel experimental laboratory method

BACKGROUND: Urinary tract infection diagnosis is based on urine culture, taken from a midstream collection. Obtaining samples in this manner is difficult in elderly patients suffering from incontinence and in infants. Objectives: (1) Develop a method for urine collection using gel-based diapers and (2) compare culture results from gel-based diapers with those of the same urine, examined by accepted methods. METHODS: Urine was collected and cultured by standard bacteriologic techniques at the microbiology laboratory of Soroka Medical Center, Beer-Sheva, Israel. Gel-based diapers were manually dampened with the same urine samples, and samples from diapers were cultured 0 to 3 hours after dampening. RESULTS: Comparison showed good correlation between direct urine cultures and cultures obtained from gel based diapers (R = 1.000). Total sensitivity was 100% and specificity 97%. CONCLUSIONS: (1) Urine can be cultured from gel-based diapers and (2) a larger sample of in vivo trials will be needed to make this technique clinically applicable in an outpatient setting.     

妊娠伴发霍乱36例临床分析

目的 提高妊娠伴发霍乱的治疗水平。方法 报告了1997年11月～1998年1月桑给巴尔暴发的一次霍乱大流行,其中36例妊娠妇女伴发霍乱者被收住院治疗。轻型14例,重型22例。所有病例粪便常规检查霍乱弧菌均阳性。在补液、补充电解质,调节酸碱干衡紊乱的同时,积极处理死胎及流产病例。对孕周>35周者,当孕妇腹泻减轻、休克纠正、病情好转后,不论胎儿是否存活,均应迅速终止妊娠。结果 14例轻型霍乱的孕妇痊愈出院,22例重型霍乱的孕妇中痊愈出院11例,死亡11例,其中4例死于肾功能衰竭,4例死于胎盘滞留、胎盘残留所致的产后大出血,3例死于心肺功能衰竭。36例胎儿中,死胎伴流产22例,死产3例,活产6例,5例维持正常妊娠,随母亲出院。结论 妊娠伴发霍乱是一种起病急、病情变化快、严重威胁母儿生命的烈性传染病,治疗上除快速大量补液外,迅速安全地终止妊娠也是治疗的关键。     

Risk factors of anaemia and iron deficiency in Somali children and women: Findings from the 2019 Somalia Micronutrient Survey

There are limited data on the prevalence of anaemia and iron deficiency (ID) in Somalia. To address this data gap, Somalia's 2019 micronutrient survey assessed the prevalence of anaemia and ID in children (6–59 months) and non-pregnant women of reproductive age (15–49 years). The survey also collected data on vitamin A deficiency, inflammation, malaria and other potential risk factors for anaemia and ID. Multivariable Poisson regressions models were used to identify the risk factors for anaemia and ID in children and women. Among children, the prevalence of anaemia and ID were 43.4% and 47.2%, respectively. Approximately 36% and 6% of anaemia were attributable to iron and vitamin A deficiencies, respectively, whereas household possession of soap was associated with approximately 11% fewer cases of anaemia. ID in children was associated with vitamin A deficiency and stunting, whereas inflammation was associated with iron sufficiency. Among women, 40.3% were anaemic, and 49.7% were iron deficient. In women, ID and number of births were significantly associated with anaemia in multivariate models, and approximately 42% of anaemia in women was attributable to ID. Increased parity was associated with ID, and incubation and early convalescent inflammation was associated with ID, whereas late convalescent inflammation was associated with iron sufficiency. ID is the main risk factor of anaemia in both women and children and contributed to a substantial portion of the anaemia cases. To tackle both anaemia and ID in Somalia, food assistance and micronutrient-specific programmes (e.g. micronutrient powders and iron supplements) should be enhanced.     

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes,SDHB and SDHD

PurposeThe weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain.MethodsWe compared the frequency of SDHB and SDHD very rare missense variants (VRMVs) in 6328 and 5847 cases of PCC/PGL, respectively, with that of population controls to generate a pan-gene VRMV likelihood ratio (LR). Via windowing analysis, we measured regional enrichments of VRMVs to calculate the domain-specific VRMV-LR (DS-VRMV-LR). We also calculated subphenotypic LRs for variant pathogenicity for various clinical, histologic, and molecular features.ResultsWe estimated the pan-gene VRMV-LR to be 76.2 (54.8-105.9) for SDHB and 14.8 (8.7-25.0) for SDHD. Clustering analysis revealed an SDHB enriched region (ɑɑ 177-260, P = .001) for which the DS-VRMV-LR was 127.2 (64.9-249.4) and an SDHD enriched region (ɑɑ 70-114, P = .000003) for which the DS-VRMV-LR was 33.9 (14.8-77.8). Subphenotypic LRs exceeded 6 for invasive disease (SDHB), head-and-neck disease (SDHD), multiple tumors (SDHD), family history of PCC/PGL, loss of SDHB staining on immunohistochemistry, and succinate-to-fumarate ratio >97 (SDHB, SDHD).ConclusionUsing methodology generalizable to other gene-phenotype dyads, the LRs relating to rarity and phenotypic specificity for a single observation in PCC/PGL of a SDHB/SDHD VRMV can afford substantial evidence toward pathogenicity.     

Strategies in the management of penetrating cardiac trauma based on 14 surviving patients from a strife-ridden area

Background  Penetrating cardiac injury is one of the most life-threatening conditions. Most patients die before reaching the hospital and those that arrive alive must receive immediate surgical intervention based on a high index of suspicion. Methods  A retrospective study was conducted of 14 patients with penetrating cardiac trauma who were surgically treated, eight who underwent surgery in Israel and six who underwent surgery in Gaza, The Palestinian National Authority. The factors influencing survival, morbidity and mortality were evaluated and long term follow-up, clinical and demographic data were examined. Results  Fourteen patients underwent urgent surgery due to penetrating heart injury. Twelve patients were in shock on admission, at exploration 11 out of the 14 patients were found to be suffering from cardiac tamponade, eight patients out of the 14 were treated by chest tubes preoperatively due to a hemothorax and seven of these eight patients were also found to have a cardiac tamponade at exploration. None of the 14 patients suffered damage to the coronary arteries. In all patients, bleeding from the hole in the heart was controlled by digital pressure and then closed using Vicryl pledgeted polypropylene sutures. There were no cases of mortality or late morbidity in any of the patients. Conclusions  Cardiac tamponade and the absence of coronary vessel injury enabled successful early definitive management of penetrating cardiac trauma patients. Transferring the patient to the operating room without delay is the key to survival.