Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.

A male child, born from consanguineous parents and having intellectual disability, short stature, dysmorphic facial features, synpolydactyly, and cardiac malformations is reported. Chromosomal microarray analysis showed that the patient presents with an 8p23.1 homozygous deletion, containing the microRNA miR-4660, the exoribonuclease 1 (ERI1), and malignant fibrous histiocytoma amplified sequence 1 (MFHAS1) genes. The microRNA miR-4660 has no known function. MFHAS1 is an immunomodulatory protein involved in Toll-like receptor signaling, erythropoiesis, and cancer. ERI1 is a ribonuclease involved in RNA metabolism and is required for the correct patterning of the skeleton by defining the HOXC8 expression. We discuss the involvement of these deleted genes to the patient's features and highlight differential diagnoses with syndromes implicating limb extremity abnormalities such as synpolydactyly, including the monosomy 8p.

Mutations in pyrin masquerading as a primary immunodeficiency.

Whole exome sequencing is increasingly used in the diagnosis of primary immunodeficiencies due to the overlapping and atypical presentations of these disorders. We report two patients who presented with recurrent infections and early onset colitis. They were investigated by whole exome sequencing due to suspicion of primary immunodeficiency and found to have mutations in pyrin known to cause familial Mediterranean fever.

Spectrum of Phenotypes Associated with Mutations in LRBA.

To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features.

Short-term neonatal outcome in singleton, late preterm deliveries: a three-year experience at a single Lebanese center.

BACKGROUND: There has been a decrease in the mean gestational age at delivery worldwide mostly due to an increase in deliveries occurring at late preterm period (LPP) with a concomitant rise in the rate of morbidities among newborns delivered at this period. OBJECTIVES: To report the frequency of common short-term neonatal morbidities in infants born at LPP (between 34(0/7) and 36(6/7) weeks' gestation) and to compare these frequencies with those of full-term infants born at our institution. MATERIALS & METHODS: A descriptive cohort study (2008-2010) at Makassed General Hospital. All deliveries occurring at LPP constituted the study group (n = 361), while births at or beyond 37 weeks' gestation were considered as controls (n = 2814). RESULTS: The average rate of deliveries in LPP was 11.4% for the entire study period. The rate of Neonatal Intensive Care Unit admissions, respiratory morbidities, sepsis, jaundice, hypothermia, hypoglycemia and overall neonatal morbidity were all significantly higher in LPP infants when compared to those at term (p-value < 0.013). CONCLUSION: In our cohort of Lebanese newborns delivered at LPP, significantly higher morbidities were encountered when compared to full-term newborns. Every possible effort should be exerted to avoid elective deliveries during LPP in order to curb the incidence of neonatal morbidities.

Pneumatocele-induced pneumothorax after COVID-19 infection in a 45-day-old infant.

Throughout the literature, many pathologic lung lesions and complications following coronavirus disease 2019 (COVID-19) infection have been reported including pneumatocele formation which could potentially lead to pneumothorax development. This case report discusses the clinical course of a 45-day-old male with respiratory distress, whose condition worsened over time. Investigations revealed elevated COVID-19 immunoglobulin G (IgG) antibodies with negative COVID polymerase chain reaction (PCR) accompanied by radiologic evidence of pneumatocele formation, which was further complicated by pneumothorax. The clinical presentation of the patient was consistent with post-COVID infection but he had no history of contact with a sick individual which prompted further investigation of the source of the infection. Upon reviewing the history of the mother, symptoms consistent with COVID-19 around 32 weeks of pregnancy were revealed, which raises the possibility of maternal-fetal exchange of COVID-19 infection. This article presents the youngest reported patient with COVID-19 pneumonia that led to pneumatocele formation.

Multisystem inflammatory syndrome in neonates associated with pneumothorax: Case report.

The coronavirus disease 2019 (COVID-19) pandemic that was spread worldwide since 2019 and showed a highly contagious character affecting the lifestyle of people worldwide causing symptoms that are not limited to the respiratory system only but had multi-systemic effects that may progress to severe complications that roughly affect people's health. A newly recognized SARS-CoV-2-associated syndrome called pediatric multisystem inflammatory syndrome has been described worldwide. Initially, it was reported as hyper-inflammatory shock and "Kawasaki-like" symptoms with fever and conjunctivitis, a similar syndrome is also reported in neonates and called Multisystem Inflammatory Syndrome of neonates (MIS-N). In this paper, we presented a case of a newborn baby girl born by caesarian section affected by multisystem inflammatory syndrome of neonates presenting with respiratory distress on her third day of life, then she developed bilateral pneumothorax and pneumomediastinum respectively that required intubation, which highlights that the recognition of pneumothorax and pneumomediastinum as potential presentations of immunoglobulin G (IgG) positive MIS-N in newborns remains crucial.

Pericardial effusion complicated by umbilical vein catheter in a preterm infant with respiratory distress syndrome: A case report.

Respiratory distress syndrome (RDS) is the most common respiratory illness in premature infants. This syndrome is characterized by a deficiency in surfactant, necessary for proper lung function. Serious complications of RDS include pericardial effusion and pulmonary hypertension. Although pericardial effusion is a rare complication of RDS, it is potentially fatal if not treated. The most common cause of pericardial effusion (PCE) is the placement of a central venous catheter (CVC), a widely used procedure in neonatal intensive care unit to support premature infants. In this paper, we report a case of a 36 + 4 weeks preterm male infant presenting for RDS. During his hospital stay, at 24 hours of life, the patient started to develop bradycardia where he was intubated. After 48 hours of birth, a central venous catheter was inserted, and on echocardiography results showed pericardial effusion, and pulmonary hypertension.

Guided paravertebral blocks with versus without clonidine for women undergoing breast surgery: a prospective double-blinded randomized study.

BACKGROUND: Paravertebral blocks (PVBs) have been introduced as an alternative to general anesthesia for breast cancer surgeries. The addition of clonidine as an adjuvant in PVBs may enhance quality and duration of analgesia and significantly reduce the consumption of analgesics after breast surgery. In this prospective randomized double-blind study, we assessed the significance of adding clonidine to the anesthetic mixture for women undergoing mastectomy. METHODS: Sixty patients were randomized equally into 2 groups, both of which received PVB block, either with or without clonidine. Analgesic consumption was noted up to 2 weeks after the operation. A visual analog scale was used to assess pain postoperatively during the hospital stay, and a numeric rating scale was used when patients were discharged. RESULTS: Analgesic consumption was significantly lower in the clonidine group 48 hours postoperatively with 95% confidence interval (CI) for the difference (-69.5% to -6.6%). Pain scores at rest showed significant reduction in the clonidine group during the period from 24 to 72 hours postoperatively with 95% CI for the ratios of 2 means (1.09-3.61), (2.04-9.04), and (2.54-16.55), respectively, with shoulder movement at 24, 48, and 72 hours postoperatively 95% CI for the ratio of 2 means (1.10-3.15), (1.32-6.38), and (1.33-8.42), respectively. The time needed to resume daily activity was shorter in the clonidine group compared with the control group with 95% CI for the ratio of 2 means (1.14-1.62). CONCLUSION: The addition of clonidine enhanced the analgesic efficacy of PVB up to 3 days postoperatively for patients undergoing breast surgery.

The effectiveness of pudendal nerve block versus caudal block anesthesia for hypospadias in children.

BACKGROUND: Caudal block (CB) has some disadvantages, one of which is its short duration of action after a single injection. For hypospadias repair, pudendal nerve block (PNB) might be a suitable alternative since it has been successfully used for analgesia for circumcision. We evaluated PNB compared with CB as measured by total analgesic consumption 24 hours postoperatively. METHODS: In this prospective, double-blinded study, patients were randomized into 2 groups, either receiving CB or nerve stimulator-guided PNB. In the PNB group, patients were injected with 0.3 mL/kg 0.25% bupivacaine and 1 µg/kg clonidine. In the CB group, patients were injected with 1 mL/kg 0.25% bupivacaine and 1 µg/kg clonidine. Analgesic consumption was assessed during the first 24 hours postoperatively. The "objective pain scale" developed by Hannalah and Broadman was used to assess postoperative pain. RESULTS: Eighty patients participated in the study, 40 in each group. The mean age in the PNB group was 3.1 (1.1) years and in the CB group was 3.2 (1.1) years. The mean weights in the PNB and CB groups were 15.3 (2.8) kg and 15.3 (2.2) kg, respectively. The percentage of patients who received analgesics during the first 24 hours were significantly higher in the CB (70%) compared with the PNB group (20%, P < 0.0001). The average amount of analgesics consumed per patient within 24 hours postoperatively was higher in the CB group (paracetamol P < 0.0001, Tramal P =0.003). CONCLUSION: Patients who received PNB had reduced analgesic consumption and pain within the first 24 hours postoperatively compared with CB.

Erratum: Rotavirus Genotypes and Vaccine Effectiveness from a Sentinel, Hospital-Based, Surveillance Study for Three Consecutive Rotavirus Seasons in Lebanon.

[This corrects the article DOI: 10.1371/journal.pone.0161345.].

Familial hemophagocytic lymphohistiocytosis in 2 siblings with dysmorphogenesis: a new syndrome or an association between 2 syndromes?!

Hemophagocytic lymphohistiocytosis represents a rare but biologically and clinically important group of disorders. The cardinal manifestations are prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. Biochemical markers include elevated ferritin and triglycerides and low fibrinogen. Here we describe a case of familial hemophagocytic lymphohistiocytosis with distinct facial abnormalities including full cheeks, shallow orbits, and high arched palate, opisthotonus with clenched hands and feet; in addition to a family history of a female sibling with a similar clinical picture who died at 3 months of age.

Multilevel nerve stimulator-guided paravertebral block as a sole anesthetic technique for breast cancer surgery in morbidly obese patients.

In this case series, we present the effectiveness of multilevel nerve stimulator-guided paravertebral block (PVB) technique in obese women of body mass index ≥30 kg/m(2) undergoing breast cancer surgery with or without axillary dissection. Twenty-six obese women were included in this case series. Block classification, hemodynamics and complication rate, postoperative nausea and vomiting, postoperative analgesic consumption, post-anesthesia care unit (PACU) stay, and hospital stay were recorded. All patients were hemodynamically stable during the operation, and no complications were noted. Patients stayed 69 min on average in the PACU and were discharged within 2 days. Confirmation of the landmark was established from the initial attempt in 61.5%. Surgical PVB was achieved in 76.9% of the patients; the failure rate of the technique was 11.5%. This case series suggested that the multilevel nerve stimulator-guided PVB may be an effective technique for obese patients undergoing breast cancer surgery, although further studies are needed to compare PVB and general anesthesia.

General anaesthesia combined with bilateral paravertebral blockade (T11-T12-L1) vs general anaesthesia for bilateral varicocelectomy. A randomized double-blind clinical trial.

INTRODUCTION: Varicocelectomy is a common operation in urology associated with considerable postoperative pain. The aim of this prospective, randomized, double-blind study was to investigate whether a combination of general anesthesia and bilateral nerve stimulator guided paravertebral nerve blocks could provide better postoperative pain relief compared to general anesthesia in combination with placebo paravertebral nerve block. METHODS: Sixty patients scheduled for varicocelectomy were randomized prospectively. Thirty patients each in either the active group (general anaesthesia combined with nerve stimulator guided bilateral paravertebral block) or the control group (general anaesthesia combined with normal saline nerve stimulator guided bilateral paravertebral block). Postoperative pain was assessed by visual analogue scale scores at predetermined time intervals. RESULTS: The active group was found to have better postoperative pain-relief (p < 0.005), reduced need for analgesics (p < 0.05), and also a more rapid return to normal activities (p < 0.001) compared to control group. Higher surgeon and patient satisfaction (p < 0.001) were noted in the active group compared to the control group. CONCLUSION: Preoperative paravertebral blockade combined with general anesthesia showed significantly reduced postoperative pain scores and analgesic consumption, earlier return to normal activity and was associated with better patient and surgeon satisfaction during varicocelectomy surgery.

Preoperative vs. postoperative bilateral paravertebral blocks for laparoscopic cholecystectomy: a prospective randomized clinical trial.

BACKGROUND: The aim of this clinical trial was to determine the potential analgesic effect of preoperative paravertebral blockade in patients undergoing laparoscopic cholecystectomy. METHODS: Sixty patients scheduled for laparoscopic cholecystectomy were randomized to one of two groups with 30 patients each: bilateral nerve stimulator guided paravertebral blockade at the T5 to T6 level either prior to induction of general anesthesia (Group 1) or blockade immediately postoperatively (Group 2). RESULTS: The preoperative paravertebral block group had significantly lower visual analog scale scores compared with the postoperative paravertebral block group both at rest 12 hours postoperatively (1.06 vs. 1.89; P < 0.05), on movement 12 hours postoperatively (1.89 vs. 3.00; P < 0.001) and on coughing 12 hours postoperatively (2.24 vs. 3.17; P < 0.01). The consumption of analgesics as well as the duration of hospital stay was significantly reduced in patients receiving preoperative paravertebral blocks (P < 0.05). [Correction added after online publication 27th May 2011: visual analog scores were amended] CONCLUSION: Bilateral paravertebral blockade performed prior to general anesthesia for laparoscopic cholecystectomy can provide early discharge and better postoperative pain management.

Wide Variability in the Sensitivity and Specificity of Rotavirus Immunoassay Diagnostic Kits in Practice.

INTRODUCTION: Most hospitals rely on rapid antigen-detection kits for the diagnosis of rotavirus infection. Several small studies reviewed the sensitivity and specificity of some of these kits. These studies showed discrepancy in results obtained for sensitivity and specificity that varied according to the type of kit used, area of study, and type of test used as standard for diagnosis of rotavirus infection. The objective of the study is to determine the sensitivity and specificity of five commonly used rotavirus immunoassay kits in comparison to RT-PCR as standard. METHODOLOGY: Stool samples (N = 1,414) collected from children under 5 years of age hospitalized with gastroenteritis were tested for rotavirus by immunoassay kits and RT-PCR in a prospective hospital-based surveillance study conducted at 7 centers in Lebanon. Concordance and discrepancy between the two methods was used to calculate sensitivity and specificity, using RT-PCR as the "gold standard". RESULTS: The sensitivity and specificity were respectively 95.08% and 86.62% for the SD Bioline® (Standard Diagnostics, Inc, South Korea) kit calculated on 645 samples, 65.86% and 45.90% for the VIROTECT® (Trinity Biotech, Ireland) kit calculated on 327 samples, 83.9% and 64.2% for the Rota-Strip (C-1001) (Coris Bioconcept, Belgium) calculated on 95 samples, 52.3% and 10.9% for the Acon® (Acon Laboratories, Inc, California, USA) kit calculated on 122 samples, 68.1% and 20% for the VIKIA® Rota-Adéno (Biomerieux, France) kit calculated on 32 samples. CONCLUSION: A wide discrepancy was detected between the calculated and advertised sensitivity and specificity for most of the kits.

Bilateral guided cervical block for Zenker diverticulum excision in a patient with ankylosing spondylitis.

Patients with severe ankylosing spondylitis (AS) have difficulties in tracheal intubation. An 87-year-old man with severe AS was scheduled for Zenker diverticulum (ZD) excision. It was decided to proceed with combined bilateral cervical plexus blockade using a nerve stimulator. The surgery lasted about 3 h, with stable hemodynamics, ECG, and oxygen saturation. The use of a nerve stimulator-guided cervical block minimizes the risk of severe respiratory and/or airway compromise secondary to phrenic nerve or recurrent laryngeal nerve palsy, because it can elicit diaphragmatic muscle response, which helps to avoid the administration of local anesthetic directly to the area of the phrenic nerve, and guides correct needle placement. In conclusion, the nerve stimulatorguided bilateral cervical block in our ZD patient with AS was shown to be a safe and successful alternative anesthetic option.

Nerve stimulator-guided occipital nerve blockade for postdural puncture headache.

Postdural puncture headache (PDPH) is one of the most common complications of spinal anesthesia, where adequate hydration with bed rest in the horizontal position is the initial recommendation. Epidural blood patch is to date the most effective treatment, but it is an invasive procedure that may result in serious complications. The aim of the current study was to conduct a prospective, randomized, single-blinded comparison between bilateral occipital blockade and conventional expectant therapy in adults suffering from PDPH. A primary hypothesis was that occipital blockade would result in better pain management and quicker return to normal activity. Fifty adult patients diagnosed with PDPH were randomly divided into two equal groups of 25 each. All patients in the block group received greater and lesser occipital nerve blocks, whereas the control group received adequate hydration, complete bed rest, and analgesics. Forty-seven patients entered into the final analysis as three patients withdrew from study. Complete pain relief was achieved in 68.4% of block patients after 1 to 2 blocks, with 31.6% ultimately receiving up to 4 blocks. Visual analog scales were significantly lower in the block group (P < 0.01), and the block group consumed significantly less analgesics in the follow-up period (P < 0.05) compared with control group. Block patients had significantly shorter hospital stays and sick leave periods (P < 0.001). The studied method is superior to expectant conservative therapy in the treatment of patients suffering from PDPH.

Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy.

Tyrosinemia type III is the rarest type of tyrosinemia, because of a mutation in 4-OH-phenylpyruvate dioxygenase (HPD). This causes two different types of diseases with different modes of inheritance: tyrosinemia type III and hawkinsinuria. Hawkinsinuria is an autosomal dominant disease, which presents a failure to thrive and metabolic acidosis; however, the liver is not affected. P.A33T heterozygous mutation was reported by Tomoeda et al. to cause hawkinsinuria. This case report will present the first case of an Egyptian-Lebanese male who developed direct hyperbilirubinemia and was found to have tyrosinemia type III, due to elevated tyrosine levels in the blood and tyrosine derivatives in the urine, but genetic testing revealed a P.A33T heterozygous mutation, a cause of hawkinsinuria.

The effect of regional anaesthesia versus general anaesthesia on behavioural functions in children.

PURPOSE: The primary objective was to assess the effect of general anaesthesia versus regional anaesthesia in a single exposure before the age of 2 years on the development of long-term behavioural changes in children. METHODS: The study was conducted between January 2014 and March 2015. Medical records of eligible children were reviewed. Then, parents of children who were included in the study were contacted and asked to visit the Outpatient Department to fill the Eyberg Child Behaviour Inventory questionnaire to measure behavioural changes in children. Children who were exposed to regional or general anaesthesia for surgery between January 2002 and December 2006 were included. Data collected were age and weight at the time of the first anaesthesia exposure and surgery duration. Chi-square test, t-test and multivariate analysis were used. RESULTS: In total, 394 children were exposed to anaesthesia before the age of 2 years. Among the 168 patients who were exposed to general anaesthesia, 44 children (26.2%) developed behavioural abnormalities compared to 12 out of 226 patients (5.3%) who were exposed to regional anaesthesia (P-value<0.0001). Exposure to anaesthesia before age of 2 years increases the risk of developing behavioural disorder when surgery is accompanied by general anaesthesia, younger age at time of exposure, and longer surgery duration (P-value<0.0001, 0.001, 0.038 respectively). CONCLUSION: Regional anaesthesia showed much lesser effect on children's behaviour compared to general anaesthesia. The incidence of behavioural disorder is increased with the use of general anaesthesia, younger age of the patient at time of exposure, and longer surgery duration.

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.

BACKGROUND: The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made the genetic information accessible at a large scale. However, connecting a rare genetic variation to a complex phenotype remains challenging. Indeed, identifying the cause of a genetic disease requires a multidisciplinary approach, starting with the establishment of a clear phenotype with a detailed family history and ending, in some cases, with functional assays that are crucial for the validation of the pathogenicity of a mutation. METHODS: Two hundred Lebanese patients, presenting a wide spectrum of genetic disorders (neurodevelopmental, neuromuscular or metabolic disorders, etc.), sporadic or inherited, dominant or recessive, were referred, over the last three and a half years, to the Medical Genetics Unit (UGM) of Saint Joseph University (USJ). In order to identify the genetic basis of these diseases, Whole Exome Sequencing (WES), followed by a targeted analysis, was performed for each case. In order to improve the genetic diagnostic yield, WES data, generated during the first 2 years of this study, were reanalyzed for all patients who were left undiagnosed at the genetic level. Reanalysis was based on updated bioinformatics tools and novel gene discoveries. RESULTS: Our initial analysis allowed us to identify the specific genetic mutation causing the disease in 49.5% of the cases, in line with other international studies. Repeated WES analysis enabled us to increase the diagnostics yield to 56%. CONCLUSION: The present article reports the detailed results of both analysis and pinpoints the contribution of WES data reanalysis to an efficient genetic diagnosis. Lessons learned from WES reanalysis and interpretation are also shared.