Israel Medical Association Journal

Background: Multiple myeloma (MM) affects the long bones in 25% of patients. The advent of positron-emission tomography/computed tomography (PET/CT) scanners offers the possibility of both metabolic and radiographic information and may help determine fracture risk. To the best of our knowledge, no published study correlates these two factors with long bone fractures.

Objective: To evaluate the impact of PET/CT on fracture risk assessment in multiple myeloma patients.

Methods: We identified all bone marrow biopsy proven multiple myeloma patients from 1 January 2010 to 31 January 2015 at a single institution. We prospectively followed patients with long bone lesions using PET/CT scan images.

Results: We identified 119 patients (59 males/60 females) with 256 long bone lesions. Mean age at diagnosis was 58 years. The majority of lesions were in the femur (n=150, 59%) and humerus (n=84, 33%); 13 lesions in 10 patients (8%) required surgery for impending (n=4) or actual fracture (n=9). Higher median SUVmax was measured for those with cortical involvement (8.05, range 0–50.8) vs. no involvement (5.0, range 2.1–18.1). SUVmax was found to be a predictor of cortical involvement (odds ratio = 1.17, P = 0.026). No significant correlation was found between SUVmax and pain or fracture (P = 0.43).

Conclusions: Improved medical treatment resulted improvement in 8% of patients with an actual or impending fracture. The orthopedic surgeons commonly use the Mirels classification for long bone fracture prediction. Adding PET/CT imaging to study in myeloma long bone lesions did not predict fracture risk directly but suggested it indirectly by cortical erosion.

Background: Granulomatosis with polyangiitis (GPA) is a rare small vessel vasculitis. It usually involves the respiratory tract and kidney. Rarely, tumor-resembling inflammatory changes ensue.

Objectives: To report three unique cases of GPA presenting with tumor-like lesions in various organs.

Methods: We presented three cases of GPA. Case 1 presented with typical upper respiratory symptoms of GPA and a mediastinal mass. Case 2 presented with low back pain, a large retroperitoneal mass, and nodular skin lesions. Case 3 presented with epigastric pain and a paravertebral inflammatory mass.

Results: The patients were treated successfully with rituximab.

Conclusions: Clinicians should be aware of this presentation of granulomatosis with polyangiitis, which is known as Tumefaction Wegener’s granulomatosis

Background: Fetal ventriculomegaly is one of the more common fetal anomalies detected during prenatal screening.

Objectives: To assess the rate of genetic aberrations as the cause for ventriculomegaly in these fetuses.

Methods: A historic cohort study was conducted on 164 fetuses with sonographic diagnosis of ventriculomegaly. All cases were analyzed for karyotype and 41 cases were further analyzed by chromosomal microarray (CMA). The study group was subdivided by laterality, severity, and whether the ventriculomegaly was an isolated finding or not. Subgroups were compared and the study group was compared to a control group of 209 fetuses.

Results: Karyotype aberrations were more common among fetuses with ventriculomegaly (6.6%) compared to controls (0%, P < 0.001). CMA aberrations were more common in the non-isolated ventriculomegaly cases (24.1%) compared to controls (6.2%, P = 0.031). The rate of genetic aberrations was not associated with the degree of dilatation or laterality.

Conclusions: It is equivocal whether CMA testing should be conducted on every amniotic fluid sample taken from fetuses with isolated ventriculomegaly. However, if more anomalies are detected during an anatomical survey, CMA analysis should be conducted to decrease oversights of genetic diagnoses.

Background: The incidence of gestational diabetes mellitus (GDM) is increasing in parallel to the worldwide obesity and type 2 diabetes pandemic. Both GDM and pre-gestational diabetes mellitus (PGDM) are associated with short- and long-term consequences in the offspring. There are few recent studies addressing outcomes of newborns born to women diagnosed with GDM and PGDM in Israel.

Objectives: To assess perinatal complications in offspring of women with GDM and PGDM.

Methods: The authors conducted a single-center retrospective case-control study of outcomes of all newborns whose mothers had been diagnosed with diabetes in pregnancy compared to randomly assigned controls born on the same date, whose mothers had no diabetes.

Results: In the study period 2015–2017, 526 mothers diagnosed with GDM or PGDM and their newborn infants were identified. The authors randomly assigned 526 control infants. The rate of women with diabetes in pregnancy was 5.0%. Mothers with GDM and PGDM had higher rates of pre-eclampsia, multiple pregnancies, and preterm deliveries. Mothers with PGDM had significantly higher rates of intrauterine fetal demise (4.3%), congenital anomalies (12.8%), and small-for-gestational-age neonates (10.6%) compared to controls (0%, 3.2%, and 4.2%, respectively, P < 0.001). The risks for preterm or cesarean delivery, large-for-gestational-age neonate, respiratory morbidity, hypoglycemia, and polycythemia were increased in offspring of mothers with diabetes, especially PGDM.

Conclusions: Despite all the advancements in prenatal care, diabetes in pregnancy, both PGDM and GDM, is still associated with significant morbidities and complications in offspring. Better preconception and inter-pregnancy care might reduce these risks

Background: In February 2020, the World Health Organisation designated the name COVID-19 for a clinical condition caused by a virus identified as a cause for a cluster of pneumonia cases in Wuhan, China. The virus subsequently spread worldwide, causing havoc to medical systems and paralyzing global economies. The first COVID-19 patient in Israel was diagnosed on 27 February 2020.

Objectives: To present our findings and experiences as the first and largest center for COVID-19 patients in Israel.

Methods: The current analysis included all COVID-19 patients treated in Sheba Medical Center from February 2020 to April 2020. Clinical, laboratory, and epidemiological data gathered during their hospitalization are presented.

Results: Our 162 patient cohort included mostly adult (mean age of 52 ± 20 years) males (65%). Patients classified as severe COVID-19 were significantly older and had higher prevalence of arterial hypertension and diabetes. They also had significantly higher white blood cell counts, absolute neutrophil counts, and lactate dehydrogenase. Low folic acid blood levels were more common amongst severe patients (18.2 vs. 12.9 vs. 9.8, P = 0.014). The rate of immune compromised patients (12%) in our cohort was also higher than in the general population. The rate of deterioration from moderate to severe disease was high: 9% necessitated non-invasive oxygenation and 15% were intubated and mechanically ventilated. The mortality rate was 3.1%.

Conclusions: COVID-19 patients present a challenge for healthcare professionals and the whole medical system. We hope our findings will assist other providers and institutions in their care for these patients.

Delusional parasitosis (DP) is a somatic type of delusional disorder, usually mono-symptomatic, in which the patients are convinced they are being infested with animal parasites while no objective evidence exists to support this belief. The complaints are usually about skin infestation, but involvement of the gastrointestinal tract has also been described. Numerous samples are brought for examination from skin, clothes, and environmental sources, while a detailed description of the “parasite” is given. In primary DP, the delusion arises spontaneously as a mono-delusional disorder, while in secondary DP, the delusional disorder arises secondary to another major medical, neurological, or psychiatric disorder. Practically all patients refuse psychiatric help. Shared psychotic disorder – folie à deux – is a known mode of presentation in delusional parasitosis. More than one member within a family may experience the same delusional state. For diagnosis and treatment of DP, a close collaboration among dermatologists, psychiatrists, and parasitologists is essential. Patients whose delusion of parasitosis is not severe can sometimes be relieved of their symptoms by establishing a reliable and meaningful therapeutic relationship. Symptomatic medication may be prescribed for the relief of pruritus, pain, and other symptoms. In more severe cases, such patients should be treated with psychopharmacological agents.

Background: A good physical exam is necessary to help pediatricians make the correct diagnosis and can save unnecessary imaging or invasive procedures. Distraction by medical clowns may create the optimal conditions for a proper physical examination.

Methods: Children aged 2–6 years who required physical examination in the pediatric emergency department were recruited and randomly assigned to one of two groups: physical exam by a pediatrician in the presence of caregivers vs. physical exam with the assistance of a medical clown. Outcome measures consisted of the level of child's discomfort, anxiety, and the quality of the physical examination.

Results: Ninety three children participated. Mean age was 3.3 ± 3.6 years (range 2–6). The duration of the physical exam was similar between the clown and control groups (4.6 ± 1.4 minutes vs. 4.5 ± 1.1 minutes (P = 0.64). The duration of discomfort was shorter in the clown group (0.2 ± 0.6 minutes) than the control group(1.6 ± 2.0 minutes, P = 0.001). In the medical clown group, 94% of pediatricians reported that the medical clown improved their ability to perform a complete physical examination. A trend of less hospitalization in the medical clown group was also noticed (11.3% in the medical clown group vs. 18.3% in the control group, P = 0.1); however, further study is required to verify this observation.

Conclusions: Integration of a medical clown in physical examination improves the overall experience of the child and the caregivers and helps the pediatrician to perform a complete physical examination.

Background: There are two main approaches to breast reduction surgery today: the traditional long scar ("Wise-pattern") technique and the more recent short ("vertical") scar technique, which is becoming more popular. During the last two decades there has been a gradual shift between the two techniques, including in our institute.

Objectives: To evaluate the evidence behind this obvious trend.

Methods: We retrospectively collected data from archived hospital charts of all patients who underwent breast reduction surgery during the period 1995–2007. Epidemiological, clinical and postoperative data were analyzed and compared between patients who were operated on by means of the short scar vs. the long scar techniques.

Results: During the study period 91 patients underwent breast reduction surgery in our department: 34 with the Wise-pattern breast reduction technique and 57 with the short-scar procedure. There was no significant difference in operative and postoperative data, including length of hospital stay. In some of the categories there was even a slight advantage (but not statistically significant) to the former. The only significant difference was the size of reduction, with a tendency to prefer the long scar technique for larger reductions; however, with gained experience the limit for short scar reductions was gradually extended to a maximum of 1470 g.

Conclusions: We noticed a sharp increase in the safe and uneventful practice of the short scar technique in breast reduction in our institute for removing ≤ 1400 g – especially in young women without extreme ptosis. This observation, together with other advantages, namely, reduced scar length, prolonged shape preservation and better breast projection, support use of this technique.
 

Background: Coverage of part of a soft tissue defect in the thumb, without bone shortening and without long-lasting immobilization in an inappropriate position leading to stiffness, is difficult to achieve.

Objectives: To report our experience using Foucher’s modification of the first dorsal metacarpal artery flap for thumb reconstruction in 21 cases.

Methods: Foucher’s flap is based on the neurovascular structures of the first dorsal metacarpal artery flap and radial nerve-sensitive branches on the dorsum of the second metacarpal and proximal phalanx. The cause of injury was work-related in all 21 cases. The patients' mean age was 37 (range 17–68 years), and mean follow-up was 19 months (range 12–31). Emergency surgery was performed in 13 patients, with a time delay after injury of 4–12 hours. The minimum defect was 12–18 mm and the maximum 20–40 mm. Pedicular length was 55–95 mm. A skin bridge was left intact in 16 cases. In two cases of early postoperative venous congestion and flap loss, a cross-finger flap was performed as a salvage procedure.

Results: Subjective satisfaction score was 8.37/10 (range 4–10); cold intolerance was experienced in 60% and dysesthesia in 33%. All except one patient are able to use their thumb in daily activity. Loss of mobility in the proximal interphalangeal joint of the index finger was less than 20 degrees. Semmes-Weinstein sensitivity evaluation score was 3.61–4.31 on the flap and 0–6.65 on the donor site. Two-point discrimination was 10.8 mm (range 8–20). Grip strength was reduced by 15% compared to the unaffected hand (hand dominance was not taken into consideration). Rehabilitation was not consistent as almost all the patients were living in another location.

Conclusions: First DMCA[1] pedicle flap is a successful thumb reconstruction method, especially in patients not disturbed by its cosmetic appearance.

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[1] DMCA = dorsal metacarpal artery

Background: The Bloom syndrome gene, BLM, was mapped to 15q26.1 and its product was found to encode a RecQ DNA helicase. The Fanconi anemia complementation group C gene was mapped to chromosome 9q22.3, but its product function is not sufficiently clear. Both are recessive disorders associated with an elevated predisposition to cancer due to genomic instability. A single predominant mutation of each disorder was reported in Ashkenazi Jews: 2281delATCTGAinsTAGATTC for Bloom syndrome (BLM-ASH) and IVS4+4A®T for Fanconi anemia complementation group C.

Objectives: To provide additional verification of the mutation rate of BLM and FACC[1] in unselected Ashkenazi and non-Ashkenazi populations analyzed at the Sheba Medical Center, and to trace the origin of each mutation.

Methods: We used polymerase chain reaction to identify mutations of the relevant genomic fragments, restriction analysis and gel electrophoresis. We then applied the Pronto^TM kit to verify the results in 244 samples and there was an excellent match.

Results: A heterozygote frequency of 1:111 for BLM-ASH and 1:92 for FACC was detected in more than 4,000 participants, none of whom reported a family history of the disorders. The Pronto^TM kit confirmed all heterozygotes. Neither of the mutations was detected in 950 anonymous non-Ashkenazi Jews. The distribution pattern of parental origin differed significantly between the two carrier groups, as well as between each one and the general population.

Conclusions: These findings as well as the absence of the mutations in non-Ashkenazi Jews suggest that: a) the mutations originated in the Israelite population that was exiled from Palestine by the Roman Empire in 70 AD and settled in Europe (Ashkenazi), in contrast to those who remained; and b) the difference in origin distribution of the BS[2] and FACC mutations can be explained by either a secondary migration of a subgroup with a subsequent genetic drift, or a separate geographic region of introduction for each mutation.

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[1] FACC = Fanconi anemia complementation group C