Israel Medical Association Journal

Nail-patella syndrome (NPS, OMIM: #161200), also known as Fong disease, hereditary osteo-onychodysplasia (HOOD), and Turner-Kieser syndrome, is a rare pleiotropic, multisystemic condition with an estimated incidence of 1 per 50,000. It is characterized mainly by developmental defects of dorsal limb structures due to symmetrical mesodermal and ectodermal abnormalities. It manifests as a classic clinical tetrad of distal digital abnormalities and fingernail dysplasia, which are typically bilateral and symmetrical, hypoplasia or absence of the patella, presence of iliac horns, and elbow deformities. It can also affect other structures (e.g., tendons, ligaments, and muscles), and may impact ophthalmic (glaucoma, increased ocular pressure and subsequent blindness), renal (nephropathy), neurological, orthopedic, and gastrointestinal systems. NPS can lead to sensorineural hearing loss and vasomotor problems [1,2]. Clinical manifestations vary greatly in frequency and severity. The prognosis is relatively good when clinical features are mild and cause no disability. However, serious and even life-threatening complications can occur. NPS is usually clinically diagnosed based on physical examination and radiological imaging. Genetic testing and renal biopsy can also assist in diagnosis confirmation.

A full-term 1-month-old female was brought to our pediatric emergency department (ED) due to 3 days of increasing respiratory distress. She was born at term to healthy, consanguineous (2nd degree) Bedouin parents after a pregnancy that lacked adequate monitoring. At birth, a physical examination revealed an imperforate anus and a recto-vestibular fistula, left hydronephrosis, large patent ductus arteriosus (PDA), and an atrial septal defect (ASD). The diagnosis of VACTER association was made. Importantly, she had no respiratory difficulties, nor hemivertebra or tethered cord.

On admission to the ED, she presented with severe respiratory distress, tachypnea, dyspnea, and hypoxemia without evidence of upper airway obstruction or stridor. Due to impending respiratory failure, she was transferred to the pediatric intensive care unit and started on non-invasive respiratory support through a high-flow nasal cannula (HFNC), which partially relieved her work of breathing. The nasal swab for respiratory viruses was positive for enterovirus, and her urine culture grew Escherichia coli. She was transferred to the pediatric ward after clinical improvement on day 3. Echocardiography performed for evaluation of pulmonary hypertension estimated normal pressures but revealed a vascular ring anomaly. A computed tomography (CT) angiography performed confirmed the presence of an aberrant left pulmonary artery also referred to as a left pulmonary artery sling (LPAS) [Figure 1A].

Gaucher disease (GD) is an inherited autosomal recessive genetic disorder caused by mutations in the glucocerebroside (GBA1) gene [1]. These variants result in decreased activity of the lysosomal enzyme β-glucocerebrosidase (GCase), which is essential for breaking down glucocerebroside into glucose and ceramide. Consequently, activated macrophages, known as Gaucher cells, accumulate undegraded glucocerebroside. The phagocytic role and naturally high-level GCase activity of macrophages may partly explain why these cells are particularly affected in GD. The accumulation of glucocerebroside in macrophages causes an expansion in the population of these cells, leading to symptoms like hepatosplenomegaly, thrombocytopenia, anemia, bleeding tendency, growth retardation, and bone issues. Bone marrow infiltration may result in bone infarction, episodes of bone crises, and osteonecrosis, mainly of large joints and less commonly as pathological fractures. These latter skeletal complications are the most critical irreversible consequence of untreated GD, significantly impacting the quality of life of patients, and hence should be avoided by early administration of specific therapy. The accumulation of glucocerebroside in lysosomes has been linked to a pro-inflammatory state [2]. In addition, the misfolding and retention of mutant GCase within the endoplasmic reticulum (ER) has been associated with ER stress and activation of the unfolded protein response, contributing to GD phenotypic heterogeneity, inflammation, and immune dysregulation [3].

Background: Prognostication is complex in patients critically ill with coronavirus disease 2019 (COVID-19).

Objectives: To describe the natural history of ventilated critical COVID-19 patients.

Methods: Due to our legal milieu, active withdrawal of care is not permitted, providing an opportunity to examine the natural history of ventilated critical COVID-19 patients. This retrospective cohort included COVID-19 ICU patients who required mechanical ventilation. Respiratory and laboratory parameters were followed from initiation of mechanical ventilation for 14 days or until extubation, death or tracheostomy.

Results: A total of 112 patients were included in the analysis. Surviving patients were younger than non-survivors (62 years [range 54–69] vs. 66 years [range 62–71], P = 0.01). Survivors had a shorter time to intubation, shorter ventilation duration, and longer hospital stay. Respiratory parameters at intubation were not predictive of mortality. Nevertheless, on ventilation day 10, many of the ventilatory parameters were significantly better in survivors. Regarding laboratory parameters, neutrophil counts were significantly higher in non-survivors on day 1 and C-reactive protein levels were significantly lower in survivors on day 10. Modeling using a generalized estimating equation showed small dynamic differences in ventilatory parameters predictive of survival.

Conclusions: In ventilated COVID-19 patients when there is no active care withdrawal, prognostication may be possible after a week; however, differences between survivors and non-survivors remain small.

Background: The impact of the coronavirus disease 2019 (COVID-19) pandemic on patient populations can be divided to direct consequences of the disease and indirect implications of changes imposed on the national healthcare systems. The impact of the later survival of chronic hemodialysis patients is still unknown.

Objectives: To examine the impact of quarantine on health outcomes of dialysis patients.

Methods: In a retrospective case-controlled study, we compared chronic hemodialysis patients from two separate timeframes: during a quarantine period and a parallel time without quarantine.

Results: The study included 344 hemodialysis patients. Baseline characteristics were compared between those enrolled in 2015 and those enrolled in 2020. Despite comparable clinical parameters, a statistically significant increase in the 6-month mortality rate was observed in 2020 (1.2% vs. 6.7%, P = 0.01), primarily attributed to sepsis. Notably, no deaths were attributed to COVID-19 in 2020. Interdialytic weight gain and dialysis quality remained similar between the two groups, with a mild trend toward excessive weight gain in 2020. Secondary outcomes after 6 months did not significantly differ, except for lower sodium values in 2015 compared to 2020.

Conclusions: Dialysis patients experienced disproportionate effects from the COVID-19 pandemic, even with continuous care and no direct virus-related fatalities. The findings showed unintended consequences of quarantine measures, highlighting adverse impact on both physical and mental health. Recognizing and addressing these consequences are imperative for minimizing their impact in future pandemics, emphasizing the importance of proactive measures in healthcare planning.

Liver transplantation (LT) remains the only definitive treatment for most types of liver failure. However, it is considered a highly technically complex surgery performed in a critically ill patient population and is, hence, associated with significant morbidity and mortality. Peroneal neuropathy with foot drop has been intermittently reported as a complication following LT, with an incidence ranging from 1.4% to 13.3% [1-4]. This debilitating condition is characterized by an inability to lift the forefoot due to paralysis or significant weakness of the dorsiflexor muscles. While it may not appear to be a serious complication, it can significantly impair gait, increase the risk of falls, and ultimately affect ambulation and the ability to perform daily activities [5].

In this case communication, we described two cases of foot drop following LT at Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel. Our research joins a growing body of evidence and raises awareness about foot drop as an underreported yet debilitating complication. It underscores the importance of increased vigilance and describes our preventive measures adopted to reduce future incidents.

Background: Cloacal malformation represents the rarest and most complex congenital anorectal malformation in females and is characterized by the convergence of urinary, gynecological, and intestinal systems within a single common channel. Three-dimensional computed tomography reconstruction (3D CT cloacagram) has emerged as a valuable method for anatomical assessment and preoperative planning.

Objectives: To evaluate our experience with 3D CT cloacagram and assess its results.

Methods: This retrospective case series included all patients with cloacal malformation who underwent preoperative 3D CT cloacagram at a single institution during 2019–2023. Collected data included patient characteristics, timing of the 3D CT cloacagram, results of the 3D CT cloacagram, comparison with endoscopic results, surgical procedures, and postoperative outcome.

Results: Six patients with cloacal malformation were included in this study, including two with posterior cloaca. The median common channel length on 3D CT cloacagram was 24.5 mm (range 9–48 mm) and the median urethral length was 15.5 mm (range 13-24 mm). The surgical approach involved a combined abdominoperineal approach in three patients and posterior sagittal anorectal vaginal urethral plasty in one patient. Two patients were awaiting surgical reconstruction at the time of publication.

Conclusions: Our implementation of 3D cloacagram has facilitated precise measurements of both the urethra and common channel lengths, two key factors in formulating surgical strategies for cloacal reconstruction. Moreover, this technique has markedly improved our capacity for surgical planning contributing to colorectal, gynecological, and urological perspectives.

War is a chaotic situation for most of the public sectors in the countries involved. These sectors also include the medical systems, especially medical education, of which medical communication is often neglected or forgotten due to objective and subjective causes on either side of the involved countries. By planning lessons on various aspects of medicine for countries at war and close mentoring and utilization of modern communications technologies, these difficulties can be minimized without jeopardizing the quality of medical studies nor medical communication. In this perspective article, we describe the objective and subjective measures taken by our team to achieve these goals during the Iron Swords war in our region.

Background: Local anesthetics are used in various sites and mechanisms to maximize perioperative analgesia and reduce opioid use and side effects. Pain management in the bariatric setting is challenging and the efficacy of local anesthetics intraoperatively is under current evaluation.

Objectives: To determine the safety and efficacy of a new intra-abdominal anesthetic technique performed during laparoscopic bariatric operations: visceral block.

Methods: During this prospective randomized double-blinded pilot study, 16 patients undergoing bariatric surgery were treated with the injection of ropivacaine to the anterior esophagogastric junction fat, and 15 were injected with saline as control.

Results: The procedure was shown to be safe, and no adverse events nor side effects were encountered. A non-statistically significant trend toward the use of a non-opioid analgesia was documented during the first postoperative hours.

Conclusions: Visceral block is a safe and feasible intraoperative procedure. A trend toward its efficacy warrants future larger scale studies.

Background: Pelvic organ prolapse in pregnancy is rare. Consequent complications include cervical infection, spontaneous abortion, and premature birth. Conservative management by means of a pessary have been described as improving maternal symptomatology and minimizing gestational risk. The delivery mode is controversial.

Objective: To describe the clinical courses of patients diagnosed with pelvic organ prolapse during pregnancy, and to present our multidisciplinary approach.

Methods: In this retrospective case series, we summarized the obstetrical outcomes of women diagnosed with pelvic organ prolapse during pregnancy in a single university-affiliated hospital.

Results: We identified eight women with advanced uterine prolapse at a mean age of 30.3 years. Seven were diagnosed with advanced uterine prolapse (Pelvic Organ Prolapse Quantification [POPQ] stage ≥ 3). All were treated by pessary placement, which was tolerable and provided symptomatic relief. The pessary type was chosen according to the prolapse stage. In women with cervical prolapse POPQ stage > 2 and cervical edema, a support pessary was less beneficial. However, the prolapse was well-controlled with a space-filling Gellhorn pessary. Low complication rates were associated with vaginal deliveries. The few complications that were reported included minor cervical laceration, postpartum hemorrhage, and retained placenta.

Conclusions: Treatment of pelvic organ prolapse during pregnancy must be individualized and requires a multidisciplinary approach of urogynecologists, obstetricians, dietitians, pelvic floor physiotherapists, and social workers. Conservative management, consisting of insertion of a vaginal pessary when prolapse symptoms appeared, provided adequate support for the pelvic floor, improved symptomatology, and minimized pregnancy complications. Vaginal delivery was feasible for most of the women.

Background: Perianal abscess is a common condition among adults. The treatment of choice includes early and efficient drainage. The data regarding risk factors for abscess recurrence, fistula formation, and complications are limited as recent publications mainly focus on patients with inflammatory bowel disease.

Objectives: To determine risk factors for abscess recurrence and fistula formation with regard to patient and surgical characteristics.

Methods: A retrospective analysis was performed on patients who presented to the emergency department and were diagnosed with perianal abscess between 2011–2020.

Results: We included 983 consecutive patients; 741 men, average age 43 years. Recurrence was documented in 434 cases. Crohn’s disease was reported in 70, of which 50 had recurrent episodes (P < 0.0001); 121 of the 234 patients who smoked had recurrence (P = 0.0078); 8% had short symptomatic period (< 24 hours), which was a predisposing factor for recurrence, P < 0.0001. Patients in the non-recurrent group waited 2.53 hours less for surgical intervention (P < 0.0005(. The average time for recurrent episode was 18.95 ± 33.7 months. Fistula was diagnosed in 16.9% of all cases, while 11.6% were within the recurrent group. Surgical expertise of the physician did not significantly change the recurrence rate.

Conclusions: Crohn’s disease and smoking were the only significant risk factors for recurrence of perianal abscess. Timely intervention and drainage of sepsis should not be delayed. Involvement of more experienced surgeons did not seem to alter the natural history of the disease.

Background: Left ventricular assist devices (LVAD) are a staple element in contemporary treatment of advanced heart failure. LVAD surgeries are mostly done in heart transplantations centers, as a destination therapy or as a bridge to heart transplantation.

Objectives: To describe our step-by-step experience in establishing and implementing a new LVAD program in a non-heart transplant center. To give insight to our short- and long-term results of our first 25 LVAD patients.

Methods: Preliminary steps included identifying the need for a new program and establishing the leading team. Next is defining protocols for pre-operative evaluation, operating room, post-operative management, and outpatient follow-up. The leading team needs to educate other relevant units in the hospital that will be involved in the care of these patients. It is essential to work in collaboration with a heart transplant center from the very beginning. Patient selection is of major importance especially in the early experience. Initially “low risk” patients should be enrolled.

Results: We describe our first 25 LVAD patients. Our first five patients all survived beyond 2 years, with no major complications. Overall, there was one operative death due to massive GI bleeding. There were four late deaths due to septic events.

Conclusions: Establishing a new LVAD program can be successful also with small- and medium-size programs. With careful and meticulous planning LVAD implantation can be extended to more centers thus offering an excellent solution for advanced heart failure patients.

Background: Gram-negative bloodstream infections (GN-BSI) are life threatening. Appropriate antimicrobial therapy and source control when indicated improve survival. Dementia is an independent risk factor for death and is associated with increased risk for infections, especially in advanced stages. Data about the best diagnostic and therapeutic approaches for patients with dementia and GN-BSI are lacking.

Objectives: To evaluate patients with dementia and GN-BSI and determine whether diagnostic imaging improves clinical outcomes.

Methods: We performed a retrospective cohort study of adult patients with GN-BSI, during 2019–2022. Patients with or without a diagnosis of dementia were compared. Outcomes were in-hospital mortality and recurrent bacteremia. Demographic, clinical, diagnostic, and therapeutic data were collected and analyzed.

Results: A total of 87 patients with dementia and 130 without were included. Patients with dementia received appropriate empirical antimicrobial therapy in 38% of cases compared to 62% of patients without dementia, P < 0.001. Imaging studies were performed in half of patients in both groups. In the dementia group, 17% had abnormal findings that required source control versus 30% in the control group (P = 0.049). Source control was performed in 15% of patients with dementia versus 28% of patients without dementia (P = 0.032). Mortality was 27.6% in the dementia group versus 22.3% in the control group (P = 0.42).

Conclusions: In patients with dementia and GN-BSI, imaging studies have lower effect on clinical outcomes. Imaging studies should be performed in selected cases only and not conducted routinely.

Background: Long-term support with a HeartMate 3 (HM3) left ventricular assist device (LVAD) has improved outcomes of patients with end-stage heart failure. However, there is a paucity of data on the outcomes of patients who underwent concomitant cardiac surgical procedure (CCSP) during HM3-LVAD implantation.

Objectives: To assess our single-center experience with patients who underwent CCSP during the implantation of an HM3-LVAD.

Methods: From December 2016 until April 2022, 131 adult patients underwent HM3-LVAD implantation. A total of 23 patients underwent CCSP during the HM3-LVAD implantation+CCSP, and 108 underwent only HM3-LVAD implantation (HM3-only).

Results: The median age was 59 ± 11 years (range 54-67), 82% (n=108) were male, and 76% (n=100) were implanted as a bridge-to-transplant. The concomitant procedures performed during the implantation included 8 aortic valve repairs/replacements, 14 tricuspid valve repairs, 4 patent foramen ovales or atrial septal defect closures, and 3 other cardiac procedures. The mean cardiopulmonary bypass time was 113 ± 58 minutes for the HM3-only group and 155 ± 47 minutes for the HM3+CCSP group (P = 0.007). The mortality rates at 30 days, 6 months, and 12 months post-implantation were 2 (9%), 5 (22%), and 6 (26%) respectively for the HM3+CCSP group, and 7 (6%), 18 (17%), and 30 (28%) for the HM3-only group (P = 0.658, 0.554, and 1.000).

Conclusions: Our experience demonstrated no significant difference in the 30-day, 6-month, and 12-month mortality rates for patients who underwent a CCSP during HM3-LVAD implantation compared to patients who did not undergo CCSP during HM3-LVAD implantation.

Background: Obliterative vaginal procedures may offer lower perioperative morbidity and equal success rates as reconstructive procedures for frail and elderly women who no longer desire future coital function. The combination of vaginal hysterectomy with either reconstructive or obliterative vaginal procedures has not yet been investigated.

Objectives: To compare peri- and postoperative outcomes of vaginal hysterectomy with pelvic floor reconstruction (VHR) vs. vaginal hysterectomy with colpocleisis (VHC).

Methods: We conducted a retrospective study comparing medical and surgical data of patients undergoing either VHR or VHC between 2006 and 2015. Data were obtained from inpatient and outpatient medical records including peri- and postoperative course, as well as long-term (24 months) follow-up data.

Results: We identified 172 patients who underwent VHR and 44 who underwent VHC. Patients in the VHC group were significantly older (71.3 ± 4.5 vs. 68.6 ± 6.5 years, P = 0.01), and more likely to have medical co-morbidities (P = 0.001 and P = 0.029, respectively). Patients in the VHC group experienced shorter operative time (2.3 ± 0.58 vs. 2.7 ± 1.02 hours, P = 0.007), lower perioperative blood loss (P < 0.0001), shorter hospital stay (P < 0.0001), and lower rates of postoperative urinary retention. Long-term pelvic organ prolapse (POP) recurrence rates were significantly higher among the VHR group. Postoperative resolution of both stress urinary incontinence and overactive bladder were common in both groups.

Conclusions: VHC is associated with lower perioperative blood loss, shorter operative time, shorter hospital stay, shorter time with an indwelling catheter, and lower long-term objective POP recurrence rates.