Physicians' attitudes and confidence toward dementia care: A cross-sectional study at primary healthcare facilities in the Eastern Province, Saudi Arabia.

BACKGROUND: Primary care physicians play an essential role in the health of older adults as they are frequently the first point of contact. Their positive attitude and knowledge influence the quality of care provided to patients with dementia and their caregivers. This study examined the attitudes of primary care physicians towards dementia care and their confidence in their own dementia-care skills. MATERIALS AND METHODS: This cross-sectional study was conducted among 316 primary care physicians working in Eastern Province of Saudi Arabia. Data were collected using a structured questionnaire that included questions related to demographic characteristics, Dementia Care Attitude Scale (DCAS) to assess attitudes towards dementia, and Confidence in Dementia Care Skills (CDCS) Scale to measure confidence. Data were analyzed using SPSS version 29; mean and standard deviation (SD) were computed for continuous and categorical variables were described using frequencies and percentages. Mann Whitney U test and Kruskal Wallis test were used to compare attitude and confidence scores by categorical variables. RESULTS: The mean DCAS score was 36.4 ± 5.41 out of 50. On a scale ranging from 15 to 75, the mean CDCS was 51.89 ± 10.20. A statistically significant (P < 0.05) relation was found between confidence and professional rank, knowing close relatives with dementia, and number of dementia and elderly patients treated. Overall, 78.9% of physicians lacked confidence to prescribe memory medications; 32% felt that dementia management was generally more frustrating than rewarding. CONCLUSION: Primary care physicians had a positive attitude toward caring for patients with dementia. However, they lacked confidence in their dementia care skills in several areas. The confidence in their diagnostic skills was higher than their management skills. Most challenging skills were recognizing and managing behavioral symptoms of dementia. Need to develop educational and training interventions that target healthcare providers to help improving dementia care in primary care settings.

Histomorphological, Histochemical and Ultrastructural Studies on the Healthy Liver of Yemen Veiled Chameleon (Chamaeleo calyptratus) in Southern Saudi Arabia / Estudios Histomorfológicos, Histoquímicos y Ultraestructurales en el Hígado Sano del Camaleón Velado de Yemen (Chamaeleo calyptratus) en el Sur de Arabia Saudita

SUMMARY: The livers of reptiles are being studied as a model for the link between the environment and hepatic tissue. There have been few investigations on the histology of reptile livers, and very few or no studies have examined the histology of liver of veiled chameleon (Chamaeleo calyptratus). This paper describes the histomorphological, histochemical and ultrastructural characterization of the liver of veiled chameleons in southern Saudi Arabia. Seven Chamaeleo calyptratus were captured in the summer season in Abha City, Aseer region, southern Saudi Arabia. Chamaeleon liver samples were processed for histomorphology, histochemistry and ultrastructure analyses. Morphologically liver of Chamaeleo calyptratus was observed as a large dark brown organ with lighter speckles, which represent melanin deposits. It located at the ventral part of abdominal cavity forward of the stomach. Its dimensions approximately were 3.7 x 2 cm. The liver was a bilobed organ divided into two lobes, right and left lobes. The right one was bigger than the others. The gallbladder was well developed and had an elongated shape, situated between the two lobes and contained the bile for the digestion. Microscopically, the liver was found to be covered by a thick layer of connective tissue, which formed the hepatic capsule. Hepatic parenchyma probably appeared in cross sections as hepatic glandular-like alveoli "acini" or follicular structures with various diameters, each acinus contains approximately four to six hepatocytes, surrounded by sinusoidal capillaries filled with abundant melanomacrophages, which are absent in birds and mammals. Melanomacrophages are common in the hepatic parenchyma's perisinusoidal areas, particularly near portal spaces. Hepatocytes are polyhedral or pyramidal with and mostly contained large, rounded nuclei mostly peripherally located, with prominent dark oval nucleoli. Some of nuclei are eccentric or central position. The cytoplasm appeared spongy or vacuolated and more eosinophilic when stained by hematoxylin-eosin and strongly reactive to PAS staining technique, indicating abundant glycogen content. The reticular fibers that surround hepatocytes, blood arteries, and sinusoids supported the hepatic parenchyma. The blood sinusoids are seen interspersed among hepatocytes of varying sizes. The sinusoidal lumen was bordered by flattened endothelial cells and includes elliptical nucleated erythrocytes and liver macrophages as phagocytes, which are also known as Kupffer cells. Branches of the portal vein, hepatic artery, small bile duct, and lymph vessels were detected in the hepatic portal area "tract" or triad which made up of connective. Hematopoietic tissue was observed in subcapsular region and portal triads. Ultrastructurally, the hepatocyte appeared polyhedric containing a single large rounded basal or eccentric vesicular nucleus with prominent nucleolus. Extensive network of rough endoplasmic reticulum (RER) often arranged in an array parallel to the nuclear membrane with many mitochondria, and Golgi apparatus were described. The cytoplasm contained glycogen granules, vesicles or vacuoles scattered throughout the cytoplasm especially at the apical region were reported. The bile canaliculi and the hepatic "Kupffer" cells were also discussed. This is the first study on the histological characterization of the healthy liver of Yemen veiled chameleon in southern Saudi Arabia. The findings reported here should be used as a reference to compare with the pathological abnormalities of the liver in this animal.

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Indirect-Neural-Approximation-Based Fault-Tolerant Integrated Attitude and Position Control of Spacecraft Proximity Operations.

In this paper, a neural adaptive fault-tolerant control scheme is proposed for the integrated attitude and position control of spacecraft proximity operations in the presence of unknown parameters, disturbances, and actuator faults. The proposed controller is made up of a relative attitude control law and a relative position control law. Both the relative attitude control law and relative position control law are designed by adopting the neural networks (NNs) to approximate the upper bound of the lumped unknowns. Benefiting from the indirect neural approximation, the proposed controller does not need any model information for feedback. In addition, only two adaptive parameters are required for the indirect neural approximation, and the online calculation burden of the proposed controller is therefore significantly reduced. Lyapunov analysis shows that the overall closed-loop system is ultimately uniformly bounded. The proposed controller can ensure the relative attitude, angular velocity, position, and velocity stabilize into the small neighborhoods around the origin. Lastly, the effectiveness and superior performance of the proposed control scheme are confirmed by a simulated example.

Thymus algeriensis and Artemisia herba-alba Essential Oils: Chemical Analysis, Antioxidant Potential and In Vivo Anti-Inflammatory, Analgesic Activities, and Acute Toxicity.

The study of bioactive molecules of natural origin is a focus of current research. Thymus algeriensis and Artemisia herba-alba are two medicinal plants widely used by the Moroccan population in the traditional treatment of several pathologies linked to inflammation. This study aimed to evaluate the single and combined antioxidant, anti-inflammatory and analgesic effects of the essential oils extracted from these two medicinal plants, and also their potential toxicity. Essential oils were extracted using hydro-distillation in a Clevenger-type apparatus. The antioxidant activity was evaluated by two methods: the scavenging of the free radical DPPH, and the reduction in iron. Anti-inflammatory activity was evaluated by evaluating the edema development induced by carrageenan injecting, while the analgesic power was evaluated according to the number of abdominal contortions induced by the intraperitoneal injection of acetic acid (0.7%). The acute oral toxicity was performed to assess the potential toxicity of the studied EOs, followed by an analysis of the blood biochemical parameters. The results of the two antioxidant tests indicated that our extract mixture exhibits good iron reduction capacity and very interesting DPPH free radical scavenging power, with an IC50 of around 4.38 ± 0.98 µg/mL higher than that of the benchmark antioxidant, BHT. The anti-inflammatory test demonstrated that the mixture administered orally at a dose of 150 mg/kg has a better activity, exceeding that of 1% Diclofenac, with a percentage of maximum inhibition of the edema of 89.99 ± 4.08. The number of cramps in the mice treated with the mixture at a dose of 150 mg/kg is significantly lower (29.80 ± 1.92) than those of the group treated with Tramadol (42.00 ± 2.70), respectively. The toxicity results show no signs of toxicity with an LD50 greater than 150 mg/Kg. These interesting results show that the two plants' EOs had an important anti-inflammatory, analgesic, and antioxidant activity, and also a powerful synergistic effect, which encourages further in-depth investigations on their pharmacological proprieties.

Electronic early notification of sepsis in hospitalized ward patients: a study protocol for a stepped-wedge cluster randomized controlled trial.

BACKGROUND: To evaluate the effect of screening for sepsis using an electronic sepsis alert vs. no alert in hospitalized ward patients on 90-day in-hospital mortality. METHODS: The SCREEN trial is designed as a stepped-wedge cluster randomized controlled trial. Hospital wards (total of 45 wards, constituting clusters in this design) are randomized to have active alert vs. masked alert, 5 wards at a time, with each 5 wards constituting a sequence. The study consists of ten 2-month periods with a phased introduction of the intervention. In the first period, all wards have a masked alert for 2 months. Afterwards the intervention (alert system) is implemented in a new sequence every 2-month period until the intervention is implemented in all sequences. The intervention includes the implementation of an electronic alert system developed in the hospital electronic medical records based on the quick sequential organ failure assessment (qSOFA). The alert system sends notifications of "possible sepsis alert" to the bedside nurse, charge nurse, and primary medical team and requires an acknowledgment in the health information system from the bedside nurse and physician. The calculated sample size is 65,250. The primary endpoint is in-hospital mortality by 90 days. DISCUSSION: The trial started on October 1, 2019, and is expected to complete patient follow-up by the end of October 2021. TRIAL REGISTRATION: ClinicalTrials.gov NCT04078594 . Registered on September 6, 2019.

Management of Knee Flexion Contracture in a Child With 3MC Syndrome Using Taylor Spatial Frame.

3MC syndrome is a rare genetic disorder inherited through an autosomal recessive inheritance pattern caused by mutations in one of three genes: COLEC11, COLEC10, and MASP1. High-arched brows, ptosis, blepharophimosis, hypertelorism, cleft lip, cleft palate, developmental delay, hearing loss, abdominal wall defect, and urogenital and skeletal abnormalities are all characteristics. In previous reports, involvement of knee flexion contracture was not known to be one of the 3MC syndrome symptoms. The prevalence of 3MC syndrome is still unknown, and there have only been a few reports. We report the case of a four-year-old female with 3MC syndrome who was diagnosed with a confirmed mutation in the COLEC11 gene. We describe a method for decreasing knee flexion contracture in a reported patient that makes use of the Taylor spatial frame (TSF). Accepted results were observed because the patient has full extension, which must be maintained by the brace. According to our findings, the TSF was the safest, most accurate, stable fixator, and most efficient solution for treating knee flexion contracture, resulting in high patient and family satisfaction.

Correlation between genetic variation in thymine DNA glycosylase and smoking behavior.

Cigarette smoking is a major lifestyle factor leading to different human diseases. The DNA repair gene, thymine DNA glycosylase, is important to cell survival because it stops cells from becoming cancerous protecting/preventing DNA. Exposure to CS may induce genetic changes such as single nucleotide polymorphisms in DNA repair genes. Therefore, the purpose of this study was to investigate the genotype and allele distributions of four TDG SNPs with only smoking behavior in normal patients. Four TDG SNPs-rs4135066 (C/T), rs3751209 (A/G), rs1866074 (C/T), and rs1882018 (C/T) were analyzed by genotyping 235 and 239 blood samples collected from cigarette smokers and non-smokers, among the Saudi population. The results showed that TDG rs4135066 has a significant susceptibility effect observed in long-term smokers (>5 years; OR = 4.53; P = 0.0347) but not in short-term smokers (≤5 years) in contrast with non-smokers. Also, in smokers aged less than 29 years, the "CT," "TT," and "CT + TT" alleles of rs1882018 increased the risk of developing all diseases related to smoking by approximately 6, 4, and 5 times, respectively, in contrast with the ancestral "CC" homozygous allele. A comparison of the allele distributions of TDG SNPs in a Saudi population with those in other populations represented in the HapMap project showed that the genetic makeup of the Saudi Arabian population appears to differ from that of other ethnicities. Exceptions include the Yoruba people in Ibadan, Nigeria; those of Mexican ancestry in Los Angeles, California; the Luhya population in Webuye, Kenya; Gujarati Indians in Houston, Texas; and the Tuscan population in Italy, which showed similar allelic frequencies for rs3751209 compared to our Saudi population. In this ethnic, we have found a high variation in the distribution of the alleles and genotype frequencies on TDG gene. This variation on TDG SNP's with smoking could lead to increase the susceptibility to many diseases related to smoking habits in this population.

Phytochemical Analysis, Antimicrobial and Antioxidant Properties of Thymus zygis L. and Thymus willdenowii Boiss. Essential Oils.

Essential oils (EOs) are chemical products produced by odoriferous glands from a variety of plants. These essential oils have many health benefits: antiseptic, anti-inflammatory and antimicrobial activities. So due to these medicinal properties, the present study was designed to analyze essential oils of Thymus zygis L. and Thymus willdenowii Boiss. for their chemical composition and biological activities. These two thyme species were collected from the region of Ifrane, Middle Atlas of Morocco. The EO was obtained by hydrodistillation, and the yields were 5.25% for T. zygis and 3.00% for T. willdenowii. The chemical composition of the EOs was analyzed by gas chromatography coupled with mass spectrometry (GC-MS), and the results showed that T. zygis EO is dominated by carvacrol (52.5%), o-cymene (23.14%), and thymol (9.68%), while the EO of T. willdenowii contains germacrene D (16.51%), carvacrol (16.19%), and geranyl acetate (8.35%) as major compounds. The antioxidant activity assessed by Diphenylpicrylhydrazyl (DPPH) and ferric reducing antioxidant power (FRAP) assays revealed that both EOs have excellent antioxidant activities; by DPPH it resulted in IC50 = 6.13 ± 0.11 for T. zygis and 6.78 ± 0.3 µg/mL for T. willdenowii, while the one by FRAP yielded EC50 = 2.46 ± 0.01 (T. zygis) and 5.17 ± 0.2 (T. willdenowii) µg/mL. The antimicrobial activity of the two essential oils was evaluated against six bacterial strains and five fungal strains by the disk diffusion method to determine the Minimum Inhibitory Concentration (MIC), Minimum Bactericidal Concentration (MBC) and Minimum Fungicidal Concentration (MFC). The EOs revealed variable antimicrobial activities against the different tested microbial strains and showed strong antimicrobial activities, even against strains known as multi-resistant to antibiotics (Acinetobacter baumannii) at low concentrations (2 µL/mL). T. zygis EO showed the most powerful activity against all the studied bacteria, while that of T. willdenowii recorded moderate activity when tested against Shigella dysenteriae and Salmonella Typhi. With inhibition diameters that vary between 75 mm and 84 mm for concentrations of 2 µL/mL up to 12 µL/mL, S. aureus was shown to be the most sensitive to T. zygis EO. For the antifungal activity test, T. zygis EO showed the best inhibition diameters compared to T. willdenowii EO. These results showed that T. zygis EO has more powerful antioxidant and antimicrobial activities than T. willdenowii EO, therefore, we deduce that thyme EOs are excellent antioxidants, they have strong antimicrobial properties, and may in the future represent new sources of natural antiseptics that can be used in pharmaceutical and food industry.

Family cluster of multi-drug resistant tuberculosis in Kingdom of Saudi Arabia.

We describe the clinical and genetic characteristics of multi-drug resistant tuberculosis (MDR-TB) in a family cluster in the western region of Kingdom of Saudi Arabia diagnosed between 2012 and 2016. All cases had risk factors for tuberculosis acquisition and they were not household contacts of the index case. Genetic analysis detected both MDR-TB and pre-extensively drug-resistant tuberculosis (pre-XDR TB) strains in the index case and confirmed tuberculosis transmission between two cases. Lack of early diagnosis of MDR-TB by molecular testing and lack of extended contact tracing contributed to the transmission of MDR-TB among this family cluster over four years.

Cross-border movement, economic development and malaria elimination in the Kingdom of Saudi Arabia.

Malaria at international borders presents particular challenges with regards to elimination. International borders share common malaria ecologies, yet neighboring countries are often at different stages of the control-to-elimination pathway. Herein, we present a case study on malaria, and its control, at the border between Saudi Arabia and Yemen. Malaria program activity reports, case data, and ancillary information have been assembled from national health information systems, archives, and other related sources. Information was analyzed as a semi-quantitative time series, between 2000 and 2017, to provide a plausibility framework to understand the possible contributions of factors related to control activities, conflict, economic development, migration, and climate. The malaria recession in the Yemeni border regions of Saudi Arabia is a likely consequence of multiple, coincidental factors, including scaled elimination activities, cross-border vector control, periods of low rainfall, and economic development. The temporal alignment of many of these factors suggests that economic development may have changed the receptivity to the extent that it mitigated against surges in vulnerability posed by imported malaria from its endemic neighbor Yemen. In many border areas of the world, malaria is likely to be sustained through a complex congruence of factors, including poverty, conflict, and migration.

The changing malaria landscape in Aseer region, Kingdom of Saudi Arabia: 2000-2015.

BACKGROUND: In 2004, a revised action plan was developed, supported by the World Health Organization, to eliminate malaria from Saudi Arabia by preventing re-introduction of malaria into regions since declared malaria free, eliminating foci of transmission in the Mecca and Medina areas and a concerted effort of foci surveillance and control, to eliminate malaria from the regions of Jazan and Aseer. This paper provides the context, activities, progress, and possible contributions toward malaria elimination in the Aseer region since 2000, with a more detailed analysis of the spatial location of locally acquired case incidence since 2012. METHODS: This is a descriptive study of all available Ministry of Health surveillance data and process reports since 2000, with higher spatial resolution analysis of data between 2012 and 2015. RESULTS: In 2000, there were 511 cases of Plasmodium falciparum locally acquired infection. The following 4 years witnessed a dramatic decline in cases to only 18 locally acquired infections reported in 2005. A resurgence in local infections was reported in 2006 (93) and 2007 (165), thereafter (2008-2014) local cases continued to decline to fewer than 40 per year across the region. However, in 2015, a small rise was noted (51). All locally acquired infections were P. falciparum. There has been a constant flow of imported infections into Aseer since 2000, mostly among immigrant labour from Pakistan, India, Sudan, and Yemen. Imported infections have included both Plasmodium vivax and P. falciparum. The spatial extent of malaria appears to be changing, but there remain two intractable areas Sarat Abeda and Dhran Aljanub, where risks per reporting centre have changed little since 2001, remaining above 0.5 per 10,000 population. Only seven villages contributed 55% of all locally acquired infection since 2012. DISCUSSION: Aseer has reached a state of very low incidence of locally acquired infections, despite a constant source of imported infections from outside the country. How many of the local infections are F2 generations from imported infections or how many are a result of residual active transmission between asymptomatic carriers of infections transmitted by pockets of existing Anopheles arabiensis populations remains unknown. A more detailed investigation of the spatial and temporal patterns of infected hosts, parasites and vectors would help define whether this region has managed to effectively prevent local transmission of new infections.

A biomechanical study of pediatric flexor profundus tendon repair. Comparing the tensile strengths of 3 suture techniques.

OBJECTIVES: To investigate the tensile strength of repaired flexor profundus tendons in young lambs, which would be equivalent to repairs in children older than 2 years of age. METHODS: A comparative in-vitro experimental study conducted at King Saud University, Riyadh, Kingdom of Saudi Arabia from October 2014 to December 2015. We utilized 30 flexor profundus tendons of young lambs with a width of 4 mm. All tendons were repaired with a 4-strand repair technique using 4/0 polypropylene core sutures. In group I (n=10 tendons), 2 separate figure-of-eight sutures were applied. In group II (n=10 tendons), simple locking sutures were added to the corners of 2 separate figure-of-eight sutures. In group III (n=10 tendons), the locked cruciate repair was used. All tendon repairs were tested to single-cycle tensile failure. RESULTS: There was no significant difference between groups II and III with regards to gap and breaking forces; and all forces of these 2 groups were significantly higher than the forces in group I. CONCLUSION: It was concluded that 4 mm-wide pediatric flexor tendons allow a 4-strand repair and the use of 4/0 sutures. The use of locking sutures increases the tensile strength to values that may allow protective mobilization in children.

Severity of old world cutaneous leishmaniasis is influenced by previous exposure to sandfly bites in Saudi Arabia.

BACKGROUND: The sandfly Phlebotomus papatasi is the vector of Leishmania major, the main causative agent of Old World cutaneous leishmaniasis (CL) in Saudi Arabia. Sandflies inject saliva while feeding and the salivary protein PpSP32 was previously shown to be a biomarker for bite exposure. Here we used recombinant PpSP32 to evaluate human exposure to Ph. papatasi bites, and study the association between antibody response to saliva and CL in endemic areas in Saudi Arabia. METHODOLOGY/PRINCIPAL FINDINGS: In this observational study, anti-PpSP32 antibodies, as indicators of exposure to sandfly bites, were measured in sera from healthy individuals and patients from endemic regions in Saudi Arabia with active and cured CL. Ph. papatasi was identified as the primary CL vector in the study area. Anti-PpSP32 antibody levels were significantly higher in CL patients presenting active infections from all geographical regions compared to CL cured and healthy individuals. Furthermore, higher anti-PpSP32 antibody levels correlated with the prevalence and type of CL lesions (nodular vs. papular) observed in patients, especially non-local construction workers. CONCLUSIONS: Our findings suggest a possible correlation between the type of immunity generated by the exposure to sandfly bites and disease outcome.

Detection of high levels of anti-α-galactosyl antibodies in sera of patients with Old World cutaneous leishmaniasis: a possible tool for diagnosis and biomarker for cure in an elimination setting.

In the Kingdom of Saudi Arabia (KSA), Old World cutaneous leishmaniasis (CL) is mainly caused by Leishmania major and Leishmania tropica parasites. Diagnosis of CL is predominately made by clinicians, who at times fail to detect the disease and are unable to identify parasite species. Here, we report the development of a chemiluminescent enzyme-linked immunosorbent assay (CL-ELISA) to measure the levels of anti-α-galactosyl antibodies in human sera. Using this assay, we have found that individuals infected with either Leishmania spp. had significantly elevated levels (up to 9-fold higher) of anti-α-Gal IgG compared to healthy control individuals. The assay sensitivity was 96% for L. major (95% CI; 94-98%) and 91% for L. tropica (95% CI; 86-98%) infections and therefore equivalent to restriction fragment length polymorphism-polymerase chain reaction analysis of parasite ITS1 gene. In addition, the assay had higher sensitivity than microscopy analysis, which only detected 68 and 45% of the L. major and L. tropica infections, respectively. Interestingly, up to 2 years following confirmed CL cure individuals had 28-fold higher levels of anti-α-Gal IgG compared to healthy volunteers. Monitoring levels of anti-α-Gal antibodies can be exploited as both a diagnostic tool and as a biomarker of cure of Old World CL in disease elimination settings.

A country on the verge of malaria elimination--the Kingdom of Saudi Arabia.

Significant headway has been made in the global fight against malaria in the past decade and as more countries enter the elimination phase, attention is now focused on identifying effective strategies to shrink the malaria map. Saudi Arabia experienced an outbreak of malaria in 1998, but is now on the brink of malaria elimination, with just 82 autochthonous cases reported in 2012. A review of published and grey literature was performed to identify the control strategies that have contributed to this achievement. The number of autochthonous malaria cases in Saudi Arabia decreased by 99.8% between 1998 and 2012. The initial steep decline in malaria cases coincided with a rapid scaling up of vector control measures. Incidence continued to be reported at low levels (between 0.01 and 0.1 per 1,000 of the population) until the adoption of artesunate plus sulfadoxine-pyrimethamine as first line treatment and the establishment of a regional partnership for a malaria-free Arabian Peninsula, both of which occurred in 2007. Since 2007, incidence has decreased by nearly an order of magnitude. Malaria incidence is now very low, but a high proportion of imported cases, continued potential for autochthonous transmission, and an increased proportion of cases attributable to Plasmodium vivax all present challenges to Saudi Arabia as they work toward elimination by 2015.

Infants of diabetic mothers. A cohort study.

OBJECTIVE: To determine the outcome of infants born to diabetic mothers at Security Forces Hospital, Riyadh, Saudi Arabia, and compare the complications seen in these infants with infants of non-diabetic mothers. METHODS: This is a concurrent prospective cohort study of a population of newborn infants delivered at Security Forces Hospital, Riyadh, Saudi Arabia for diabetic mothers between January 2011 and November 2011. RESULTS: A total of 601 infants were enrolled in the study consisting of 319 infants of non-diabetic mothers, and 282 infants of diabetic mothers. Infants of diabetic mothers showed significantly higher rates of associated complications and prolonged hospital stay reflected in their admission to the neonatal intensive care when compared with infants of non-diabetic mothers. There was no difference in rate of complications between infants of gestational diabetics and pre-gestational diabetics. CONCLUSION: Our study showed that diabetic pregnancies are associated with an increased incidence of neonatal complications. These seem to be related to the degree of maternal glycemic control. The higher rates of complications among our infants of diabetic mothers, particularly major congenital malformations call for those involved in the care of diabetic mothers to consolidate their efforts to facilitate early booking in specialist clinics.

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1 large deletion, each causing a frameshift and leading to a premature stop codon, and 1 nonsense mutation. Four of these 9 variants are recurrent, affecting 25 of the 30 reported kindreds, due to founder effects in specific countries. All patients are homozygous and display complete IL-12p40 deficiency. As a result, the patients lack detectable IL-12p70 and IL-12p40 and have low levels of interferon gamma (IFN-γ). The clinical features are characterized by childhood onset of bacille Calmette-Guérin (attenuated Mycobacterium bovis strain) (BCG) and Salmonella infections, with recurrences of salmonellosis (36.4%) more common than recurrences of mycobacterial disease (25%). BCG vaccination led to BCG disease in 40 of the 41 patients vaccinated (97.5%). Multiple mycobacterial infections were rare, observed in only 3 patients, whereas the association of salmonellosis and mycobacteriosis was observed in 9 patients. A few other infections were diagnosed, including chronic mucocutaneous candidiasis (n = 3), nocardiosis (n = 2), and klebsiellosis (n = 1). IL-12p40 deficiency has a high but incomplete clinical penetrance, with 33.3% of genetically affected relatives of index cases showing no symptoms. However, the prognosis is poor, with mortality rates of up to 28.6%. Overall, the clinical phenotype of IL-12p40 deficiency closely resembles that of interleukin 12 receptor ß1 (IL-12Rß1) deficiency. In conclusion, IL-12p40 deficiency is more common than initially thought and should be considered worldwide in patients with MSMD and other intramacrophagic infectious diseases, salmonellosis in particular.

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic criteria of 3C syndrome and who also have alopecia, camptodactaly and significant renal involvement. Interestingly, two otherwise normal female siblings have unilateral renal agenesis only. This report expands the phenotypic spectrum of 3C syndrome.

Huge pulmonary artery aneurysm.

Pulmonary artery aneurysms (PAAs) are uncommon entities. PAAs are caused mostly by trauma (often iatrogenic), infections and Behcet's disease (BD). Less common causes are pulmonary hypertension, congenital heart disease and neoplasm. BD is a multisystem disorder presenting with recurrent oral and genital ulcerations, as well as ocular involvement, and PAA is one of its rare complications. A case of huge PAA, in which the usual criteria for the clinical diagnosis of BD were present, is described. Transcatheter embolization resulted in clinical improvement.