Recent Publications

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive bile acid synthesis disorder. Biallelic pathogenic variants in CYP27A1, encoding for sterol 27-hydroxylase, impair cholic acid (CA) and chenodeoxycholic acid (CDCA) synthesis and lead to accumulation of cholestanol and C₂₇ bile alcohols. Treatment with CDCA decreases the accumulation of these harmful metabolites and slows disease progression. Currently, CDCA is contraindicated for use during pregnancy based on animal studies that showed high-dose CDCA may cause fetal harm when administered to pregnant animals. Data regarding the safety of CDCA treatment in humans is lacking.

Foreign body ingestion in adults is commonly encountered in clinical practice. The therapeutic approach of whether to follow-up or extract is often controversial. We aimed to explore predictors for spontaneous passage of ingested foreign bodies by focusing on foreign body type, length, and location of impaction.

Controlling tuberculosis (TB) among immigrants from high-incidence countries presents a public health concern as well as a medical challenge. In this article, we investigate a TB outbreak in a community of people of Jewish descent who emigrated from Ethiopia to Israel (Israeli Ethiopians) that started in June 2022. 

Infectious diseases are one of the world's leading causes of morbidity. Their rapid spread emphasizes the need for accurate and fast diagnostic methods for large-scale screening. Here, we describe a robust method for the detection of pathogens based on microscale thermophoresis (MST).

Lupus nephritis (LN) is a pathologically heterogenous autoimmune disease linked to end-stage kidney disease and mortality. Better therapeutic strategies are needed as only 30%-40% of patients completely respond to treatment. Noninvasive biomarkers of intrarenal inflammation may guide more precise approaches. Because urine collects the byproducts of kidney inflammation, we studied the urine proteomic profiles of 225 patients with LN (573 samples) in the longitudinal Accelerating Medicines Partnership in RA/SLE cohort.

Comment

Acute gastrointestinal infection with intracellular pathogens like Salmonella Typhimurium triggers the release of the proinflammatory cytokine interleukin 1β (IL-1β). However, the role of IL-1β in intestinal defense against Salmonella remains unclear. Here, we show that IL-1β production is detrimental during Salmonella infection.

(Mor Zigdon, Jasmin Sawaed, Lilach Zelik, Dana Binyamin, Shira Ben-Simon, Nofar Asulin, Rachel Levin, Sonia Modilevsky, Maria Naama, Shahar Telpaz, Elad Rubin, Aya Awad, Wisal Sawaed, Sarina Harshuk-Shabso, Meital Nuriel-Ohayon, Michal Werbner, Omry Koren, Shai Bel)

The burden of herpes zoster (HZ) among individuals with bullous pemphigoid (BP) remains to be firmly established as previous studies were inconsistent and were hampered by prominent methodological drawbacks. Our knowledge about determinants and risk factors of HZ in BP is sparse. Delineating this topic is of substantial clinical significance as it might shed light on putative measures that might be adapted in high-risk patient populations to mitigate the risk of HZ.

Isolated sphenoidal sinusitis (ISS) is a rare disease with non-specific symptoms and a potential for complications. Diagnosis is made clinically, endoscopically, and with imaging like CT scans or MRIs. This study aimed to evaluate if ISS meets the EPOS 2020 criteria for diagnosing acute rhinosinusitis and if new diagnostic criteria are needed.

(Raed Farhat, Ashraf Khater, Nidal El Khatib, Majd Asakly, Alaa Safia, Marwan Karam, Saqr Massoud, Yaniv Avraham, Shlomo Merchavy)

Choanal atresia occurs in about 1 in 5000 births and is associated with other structural and genetic abnormalities. Choanal atresia is usually diagnosed postnatally due to respiratory distress, and rarely diagnosed antenatally. Here, a woman with severe polyhydramnios is described, whose fetus was diagnosed antenatally with isolated bilateral choanal atresia, as evident by persistent absence of flow through the nostrils on ultrasound. A literature review is presented of the antenatal findings of choanal atresia, using ultrasound and other imaging modalities.

Pancreatic adenocarcinoma (PAC) is one of the most lethal types of cancer. Most cases of PAC occur in the head of the pancreas. Given the proximity of the pancreatic head to the bile duct, most patients present clinically during early stages of the disease, while distally located PAC could have delayed clinical presentation.  Aims: To assess predictors of non-head PAC. 

Multiple sclerosis (MS) is a multifactorial disease of uncertain etiology damaging myelin sheaths around axons of the central nervous system. Myelin protects the axon from potentially harmful exogenous factors. The aetiological role of environmental exposure metals and organophosphates is unclear. Objective: Identify whether urinary levels of metals and organophosphates differed in MS patients and controls.

Acute graft-versus-host disease (aGvHD) is a serious complication of allogeneic hematopoietic stem-cell transplantation with limited treatment options. The gut microbiome plays a critical role in aGvHD pathogenesis. Fecal microbiota transplantation (FMT) has emerged as a potential therapeutic approach to restore gut microbial diversity. In this prospective pilot study, 21 patients with steroid-resistant or steroid-dependent lower gastrointestinal aGvHD received FMT in capsule form.

Patients with atrial fibrillation (AF) are at increased risk of thromboembolic events originating mainly from left atrial appendage thrombus (LAAT). Patients with atrial flutter (AFL) are treated with anticoagulation based on the same criteria as patients with AF. However, whether patients with AFL have similar thromboembolic risk as AF is unclear. In the current study we aimed to estimate the prevalence of LAAT in patients with AFL undergoing trans-esophageal echocardiography (TEE).

Child vaccinations are among the most effective public health interventions. However, wide gaps in child vaccination remain among different groups with uptake in most minorities or ethnic communities in Europe substantially lower compared to the general population. A systematic review was conducted to understand health system barriers and enablers to measles, mumps and rubella (MMR) and human papilloma virus (HPV) child vaccination among disadvantaged, minority populations in middle- and high-income countries.

(Jumanah Essa-Hadad, Yanay Gorelik, Michael Edelstein)