Lactose-6-phosphate as an alternative to disodium phosphate in the production of processed cheese food.

Processed cheese food (PCF) is a dairy product prepared by blending dairy ingredients with nondairy ingredients and heating the blend with agitation to produce a homogeneous product with an extended shelf life. Emulsifying salts (ES), such as disodium phosphate (DSP) and trisodium citrate, have a critical effect on the emulsification characteristics of casein by sequestering the calcium from the calcium-paracaseinate phosphate complex in natural cheese. Lactose-6-phosphate (LP) is an organic compound produced from lactose that has the potential to function as ES. Lactose-6-phosphate is not approved for use as a substitute for ES in the large-scale production of PC. The objective of this study was to produce PCF with LP instead of DSP. Lactose-6-phosphate was prepared by mixing 1 mol of α-lactose with 0.5 mol of sodium cyclo-triphosphate. The pH of recombined solutions was adjusted using sodium hydroxide to get a pH of 12 to obtain 60.74% LP. The solution was stirred for 3 d at room temperature and then concentrated to 52% total solids (TS). The ingredients in the PCF formulations were Cheddar cheese, butter, water, milk permeate powder, and LP (at a ratio of 2.0, 2.4, 2.8, 3.2, 4.0, 5.0, and 6.0%) were formulated to contain 17.0% protein, 25.0% fat, 44.0% moisture, and 2.0% salt. Processed cheese food made with 2.0% DSP was also produced as a control. The PCF was prepared by mixing all ingredients in a Kitchen Aid stand mixer to make a homogeneous paste. A 25-g sample of the mixture was cooked in the rapid visco analyzer (Perten RVA 4500, Macquarie Park, Australia) for 3 min at 95°C at 1,000 rpm for the first 2 min and 160 rpm for the last minute. The PCF was then transferred into molds and refrigerated till further analyses. The PCF was analyzed for moisture, pH, end apparent cooked viscosity, hardness, melted diameter, and melting temperature. The experiment was repeated 3 times using different batches of LP. The moisture of PCF ranged from 42.3% to 44.0% with a pH of 5.6 to 5.8. The end apparent cooked viscosity increased from 818.0 to 2,060.0 cP as the level of LP raised from 0.63% to 1.90%, whereas it was 660.0 cP in control. The hardness of PCF made with LP elevated from 61.9 to 110.1g as the level of LP increased; however, it was 85.6 g in control. The melted diameter decreased from 43 mm in control to 29 mm in 1.90% LP, while the melting temperature of PCF increased from 37.7°C in control to 59.0°C in 1.90% LP. We conclude that LP can be used as a substitute for DSP in PCF manufacture and has more capacity than DSP.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. We also report homozygous loss-of-function events that can inform the genetics of complex diseases. We were also able to deduce the likely causal variant in most couples who presented after the loss of one or more children, but we lack samples from those children. Although a similar pattern of mostly recessive causes was observed in the prenatal setting, the higher proportion of loss-of-function events in these cases was notable. The allelic series presented by the wealth of recessive variants greatly expanded the phenotypic expression of the respective genes. We also make important observations about dominant disorders; these observations include the pattern of de novo variants, the identification of 74 candidate dominant, disease-related genes, and the potential confirmation of 21 previously reported candidates. Finally, we describe the influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome). Our cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.

PLACK syndrome is potentially treatable with intralipids.

We describe an 11-year-old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood-derived RNA. There is no established treatment for PLACK syndrome. However, we demonstrate for the first time that this condition is associated with low levels of vitamin A and essential fatty acids, which prompted us to consider a potential treatment strategy. Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid®; an emulsion of fat-soluble vitamins and lipofundin-MCT/LCT 20%) and the response was dramatic. Following the fourth monthly course of treatment, pruritis disappeared and the skin lesions showed remarkable objective improvement. PLACK syndrome is a very rare genodermatosis and only six families have been described to date with pathogenic CAST variants. This is the first report of an objective response to a therapeutic agent, which suggests that PLACK is a potentially treatable condition. The remarkable response we report and the relative safety of the intervention should prompt healthcare providers who care for PLACK syndrome patients to explore this as a potential treatment strategy in future studies.

SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.

Congenital glucose-galactose malabsorption (cGGM) is a rare autosomal recessive disorder, caused by mutations in the SLC5A1 gene, encoding the sodium/glucose cotransporter 1, which may result in severe life-threatening osmotic diarrhea due to the accumulation of unabsorbed sugars in the intestinal lumen. If treated early with elimination of glucose and galactose from the diet, patients usually recover and develop normally. We present clinical and molecular data from 16 unrelated cGGM diagnosed Saudi patients from consanguineous families with majority of them having previous positive family history of cGGM. Sanger sequencing for the full coding regions of SLC5A1 for all patients resulted in the identification of 4 allelic variants in a homozygous state. Two mutations are novel; c.265G>A (p.G89R) and c.1304 G>A (p.G435D), and 2 have been previously reported to cause cGGM, c.765 C>G (p.C255W) and c.1136 G>A (p.R379Q). This is the first report delineating the clinical and molecular basis of cGGM in patients from this region.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.

Measurement of carbohydrates and organic acids in varieties of cheese using high-performance liquid chromatography.

Lactose is converted to lactic acid through fermentation and ripening of cheese using starter cultures. The content of lactic acid and organic acids formed during storage of cheese is different based on the type of starter cultures, pH, processing, and storage conditions. The objective of this study was to determine the carbohydrates and organic acids of four different commercial cheese samples (Parmesan, Mozzarella, Swiss, and Cheddar cheese) using high-performance liquid chromatography (HPLC). The lactose content in Cheddar cheese was significantly high (p < .05) as compared to Parmesan cheese while Mozzarella and Swiss cheese did not have lactose. However, galactose was low in Swiss cheese as compared to other cheese types, while glucose did not detect in all cheese samples. Organic acids such as citric, succinic, lactic, and butanoic acids were high in Parmesan cheese relative to other cheese types. Additionally, pyruvic and propanoic acids were high (p < .05) in Swiss cheese while acetic and orotic acids were elevated (p < .05) in Mozzarella cheese relative to other types of cheese.

The first report on the association of celiac disease and cystic fibrosis in a tertiary care center in Saudi Arabia.

Introduction: Celiac disease (CD) has been described before in Saudi Arabia (SA) to be at the range of 1%-2% in the general population, but the association of celiac disease and cystic fibrosis (CF) has never been described before in the Middle East. Objectives: To describe the prevalence of the association of CD and CF in patients with gastrointestinal symptomatology in a tertiary care center. Method: ology: A retrospective charts review of all confirmed CD and CF patients for the years 1989-2018. Results: In a total of 391 confirmed CF patients, 74 of them (19%) had celiac screening due to their symptomatology in the form of (abdominal pain and distension, vomiting, diarrhea despite adequate pancreatic enzyme replacements, and had high antigliadin antibodies and anti-transglutaminase IgA (tTGA). Thirty-five of the 74 patients were male (47.3%, and 39 (52.7%) were female patients. The mean age at diagnosis of CD was 6.1 (3.9), and the mean age at follow up was 7 (5 years). Only 2 of the 74 patients (3%) had bowel biopsies with the typical pathological findings of CD with villous atrophy. Both patients were placed on a gluten-free diet and showed marked improvement in symptomatology and weight gain. Conclusion: CD screening should be considered in all CF patients despite the absence of symptoms. The prevalence of CD in CF patients in SA is similar to or slightly higher than that of the general population. A further study to screen the whole CF population is needed to delineate the actual prevalence, particularly in nonsymptomatic CF.

Addition of inulin to probiotic yogurt: Viability of probiotic bacteria (Bifidobacterium bifidum) and sensory characteristics.

The objective of this work was to study the effect of different concentrations of inulin (0.2, 0.4, and 0.6%) on the viability of probiotic bacteria (Bifidobacterium bifidum) and sensory characteristics of probiotic yogurt. The yogurt was manufactured with Lactobacillus delbruckii ssp. bulgaricus (Lb), Streptococcus thermophilus (St), and Bifidobacterium bifidum (Bb). Raw milk was received, heated to 90°C, and divided into 4 aliquots portions. All portions were inoculated with 5.11 log cfu of Lb and St combined and 5 log cfu of Bb per kg of milk. The first portion was utilized as control (T1) while 0.2, 0.4, and 0.6% of inulin were added to the second (T2), third (T3), and fourth (T4) portions, respectively. All treatments were incubated at 40°C until a pH of 4.6 was reached. Subsequently, the yogurt was cooled and stored at 4°C for 16 days. Titratable acidity, total bacterial count (TBC), Bb count, yeast count, mold count, and sensory evaluation were determined during the storage. The results showed that the addition of inulin and the storage period have significant effects (p < .05) on the titratable acidity of the yogurt. The storage of control was ended after 8 days at 4°C due to the growth of molds on the surface of the samples. The TBC decreased (p < .05) over time in control from 8.28 to 7.97 log cfu/g. It was also decreased (p < .05) with increasing the concentration of inulin. However, the addition of inulin increased (p < .05) the viability of Bb during the storage, as well as, acted as an antimicrobial against molds in T2, T3, and T4. Additionally, there were no significant differences (p > .05) in the sensory evaluation of all treatments. We conclude that inulin can be utilized in the manufacturing of probiotic yogurt as a prebiotic, which, inturn, enhances the growth of Bb and increase the shelf-life.

A novel process to improve the characteristics of low-fat ice cream using date fiber powder.

The objective of this study was to improve the characteristics of low-fat ice cream (LFIC) using date fiber powder (DFP). DFP was added to LFIC mix (3% fat, 14% milk solids nonfat, 15% sucrose, 0.3% stabilizer, and 0.1% vanilla) at a rate of 1.5%, 2.5%, and 3.5%. Control treatment with no DFP was also manufactured for comparison. The LFIC mix was analyzed for physicochemical and microbiological analyses. After manufacture, microbiological, rheological, and sensory characteristics of LFIC were evaluated during storage at -18˚C for 30 days. The addition of DFP to the LFIC mix led to increasing (p < .05) the density and weight per gallon (lb) of final product. Thus, a 3.5% of DFP led to increasing the density of LFIC from 0.6 to 1.0 g/cm3 and weight per gallon from 5.2 to 9.0 lb, while the overrun of LFIC was decreased (p < .05) from 50.0% to 24.0%. Additionally, the melting resistance of LFIC made with DFP was higher (p < .05) as compared to control. Approximately 60% of LFIC made with DFP was melted after 50 min compared to 100% in control. The total bacterial count (TBC) and yeast and molds' count slightly increased in LFIC with adding DFP. However, there was a slight decrease in these counts during storage for 30 days. Psychrotrophic and coliform bacteria were not detected in the LFIC. Organoleptically, LFIC made with DFP showed higher scores (p < .05) of body and texture, melting quality, and appearance as compared to control during the 30 days of storage. However, the flavor was slightly decreased (p < .05) as the concentration of DFP was increased. The overall scores were increased with increasing the DFP concentrations up to 15 days as compared to control, followed by a decrease at 30 days of storage.

Effect of fat extraction methods on the fatty acids composition of bovine milk using gas chromatography.

Milk fat is a complex natural fat and contains around 400 fatty acids. The objectives of this study were to extract fat from bovine milk using two different methods, including Bligh and Dyer and Mojonnier, and to determine the fatty acid content in the extracted fats using gas chromatography (GC). No differences (p > .05) were detected in the fat content and fatty acids content as a percentage of total fat (FA%TF) extracted using both methods. No differences (p > .05) were detected in some saturated fatty acids (SFAs) and unsaturated fatty acids (USFAs) extracted from both methods, such as C11:0 (undecylic acid), C16:0 (palmitic acid), C18:0 (stearic acid), C14:1 (myristoleic acid), and C16:1 (palmitoleic acid). However, the majority of SFAs were different (p < .05) in Mojonnier method as compared to Bligh and Dyer method and vice versa for USFAs. The short (6.54% vs. 5.95%) and medium (21.86% vs. 20.73%) chains FAs determined by GC were high in Mojonnier fat as compared to Bligh and Dyer fat, while the long-chain FAs were higher in the last (66.61%) relative to Mojonnier fat (65.51%). This study found that Mojonneir method has resulted in fewer errors. In contrast, the Bligh and Dyer extraction method has more experimental error, which led to decreasing the total fat, as well as was not able to detect C9:0.

Non-Fat Yogurt Fortified with Whey Protein Isolate: Physicochemical, Rheological, and Microstructural Properties.

The demand for low- and non-fat products has recently increased due to the health problems, such as obesity, diabetes, and cardiovascular diseases, that have resulted from high-fat products. However, the reduction in fat can affect the quality of products adversely. The objective of this work was to explore the potential of whey protein isolate (WPI) in improving the quality of non-fat yogurt prepared using skim milk powder (SMP). Yogurt mixes (standardized at 14% total solids) were formulated using SMP as a milk base enriched with WPI. The SMP was replaced by WPI in the yogurt mixes at a rate of 3, 5, 7, and 9%. Full-fat and non-fat set-style yogurts were prepared from whole milk and skim milk, respectively, as controls. Yogurts were fermented at 43 °C to get a pH of 4.6 and stored at 4 °C for the next day. The texture, microstructure, rheological characteristics, and sensory properties of the yogurt samples were studied. The incorporation of WPI increased the water holding capacity to 50% as compared to the non-fat control. This improved the rheological properties while the yogurt viscosity increased in direct proportion with increasing the WPI. The firmness of yogurt was inversely proportional to the increase in WPI, which resulted in 180 g firmness when 9% WPI was added to the non-fat yogurt formulations. Yogurts' microstructure improved by the addition of WPI. The non-fat yogurt incorporated with 3 and 7% WPI had comparable sensory and textural characteristics to the full-fat yogurt. WPI can be used as a fat replacer to develop low-fat yogurt with desired features. WPI may be a natural and economical ingredient for producing low- and non-fat fermented dairy food products.

Stigmatization among parents of autism spectrum disorder children in Riyadh, Saudi Arabia.

BACKGROUND: Children diagnosed with autism spectrum disorder (ASD) have social and cognitive disabilities. For parents, these behaviors can lead to humiliation, social exclusion, and isolation. Stigma is a problem that not only may affect the individual with high functioning autism, but has the potential to extend to their family as well. Indeed, research indicates that the parents of children with disabilities (including ASD) commonly experience stigmatizing reactions from others. AIM OF WORK: To determine the prevalence of self and enacted stigma among parents of ASD children from Riyadh, Saudi Arabia, and recognize possible risk factors and causes of stigmatization. MATERIAL AND METHODS: An observational cross-sectional study involving the parents of ASD children from Riyadh, Saudi Arabia. About 163 participants were included from the Centre for Autism Research (CFAR) at King Faisal Specialist Hospital & Research Centre (KFSH & RC) in Riyadh. The primary material used for data collection was a five-point scale questionnaire developed by the investigator. The questionnaire consisted closed ended questions related to the participants' demographic data, autistic child, family life, resources, and social experiences as a parent. The collected data were analyzed using descriptive statistics and appropriate statistical analysis, using Statistical package for the social sciences (SPSS), version 22. The level of significance was P value < .05. RESULTS: The findings of this work indicated that 55 (33.7%) of the parents scored more than 3 in answering questions related to felt stigma; 82 (50.3%) were fathers. On the other hand, 108 (66.3%) did not feel stigmatized being a parent of autistic child. Forty-two (25.8%) of the parents scored more than 3 in answering questions related to enacted stigma, whereas 121 (74.2%) did not face enacted stigmatization being a parent of autistic child. There was a strong tendency for mothers (41, 75%) to feel more self- and enacted stigmatized than fathers (P < .05). Moreover, the gender of the autistic child, consanguinity, severity of the ASD, and the monthly income of the family showed no significant difference in the parents who scored more than 3 for felt- or enacted stigmatization (P > .05). CONCLUSION: Among participated parents of children with ASD in Riyadh, Saudi Arabia, 33.7% of them experienced stigmatization, and mothers felt more self- and enacted stigmatized when compared to fathers. Public awareness among people in Saudi Arabia have been increased and, thus, negative stigmatization has decreased among parents in the country. A high level of felt stigma suggests the need for psychological intervention for the family to help cope with this new situation. A higher level of enacted stigma suggests the need for their rights (individuals with ASD) and increased awareness in the society. It is recommended that further research is needed in different centers in Riyadh and other regions of Saudi Arabia to investigate the prevalence of stigma in parents of autistic children.

Enhancement of the Molecular and Serological Assessment of Hepatitis E Virus in Milk Samples.

Hepatitis E virus (HEV) infection is endemic in developing and developed countries. HEV was reported to be excreted in the milk of ruminants, raising the possibility of transmission of HEV infection through the ingestion of contaminated milk. Therefore, the detection of HEV markers in milk samples becomes pivotal. However, milk includes inhibitory components that affect HEV detection assays. Previously it was reported that dilution of milk matrix improves the performance of HEV molecular assay, however, the dilution of milk samples is not the best strategy especially when the contaminated milk sample has a low HEV load. Therefore, the objective of this study is to compare the effect of extraction procedures on the efficiency of HEV RNA detection in undiluted milk samples. In addition, we assessed the effect of the removal of milk components such as fats and casein on the performance of the molecular and serological assays of HEV. Phosphate buffered saline (PBS) and different milk matrices (such as whole milk, skim milk, and milk serum) were inoculated with different HEV inoculums and subjected to two different extraction procedures. Method A includes manual extraction using spin column-based extraction, while method B includes silica-based automated extraction. Method A was more sensitive than method B in the whole milk and skim milk matrices with a LoD95% of 300 IU/mL, and virus recovery yield of 47%. While the sensitivity and performance of method B were significantly improved using the milk serum matrix, with LoD95% of 96 IU/mL. Interestingly, retesting HEV positive milk samples using the high sensitivity assay based on method B extraction and milk serum matrix increased the HEV RNA detection rate to 2-fold. Additionally, the performance of HEV serological assays such as anti-HEV IgG and HEV Ag in the milk samples was improved after the removal of the fat globules from the milk matrix. In conclusion, HEV RNA assay is affected by the components of milk and the extraction procedure. Removal of inhibitory substances, such as fat and casein from the milk sample increased the performance of HEV molecular and serological assays which will be suitable for the low load HEV milk with no further dilutions.

Natural history and outcome of inflammatory bowel diseases in children in Saudi Arabia: A single-center experience.

Background/Aim: Inflammatory bowel disease (IBD) is a chronic gastrointestinal disorder which includes ulcerative colitis (UC), Crohn's disease (CD), and indeterminate colitis (IC). The natural history of pediatric IBDs is poorly understood and generally unpredictable. We aim to study the natural history of IBD in Saudi children including the extraintestinal manifestations, changes in diagnosis, disease behavior, medical management, and surgical outcome. Patients and Methods: A retrospective review of all the charts of children less than 14 years of age who were diagnosed as IBD and followed up in King Faisal Specialist Hospital and Research Center (KFSH and RC) from January 2001 to December 2011 was performed. Results: Sixty-six children were diagnosed with IBD, 36 patients (54.5%) had CD, 27 patients (41%) had UC, and 3 patients (4.5%) had IC. Change in the diagnosis from UC to CD was made in 5 patients (7.6%). Extraintestinal manifestations were documented in 32% of all patients, and the most common was bone involvement (osteopenia/osteoporosis) in 16.7% of the patients. Arthritis (13.6%) was the second most common manifestation. Sclerosing cholangitis was reported in 2.8% in CD compared to 14.8% in UC. At the time of data collection, 8 patients (12%) were off therapy, 38 patients (57.6) were on 5-ASA, 31 patients (47%) were on azathioprine, and 12 patients (18.2%) were receiving anti-TNF. Of the children with CD, 10 patients (27.8%) underwent 1 or more major operations. Of the children with UC, 18.5% underwent 1 or more major intraabdominal procedures. Conclusions: Many issues in pediatric IBD can predict the natural history of the disease including growth failure, complications, need for more aggressive medical treatment, and/or surgery. More studies are needed from the region focusing on factors that may affect the natural history and disease progression.

Neonatal Hyperthyroidism with Fulminant Liver Failure: A Case Report.

Neonatal hyperthyroidism is a rare disease that is seen in infants born to mothers with Graves' disease. Hepatic manifestation of neonatal hyperthyroidism is extremely rare. We describe a neonate with fulminant liver failure secondary to neonatal hyperthyroidism caused by maternal Graves's disease. The baby was admitted with low birth weight and hepatosplenomegaly. At day 2 of life, the baby was irritable and he developed respiratory distress and fulminant hepatic failure which required mechanical ventilation. All investigations of obstructive, infectious and metabolic causes of hepatic failure were negative. His hepatic dysfunction improvement was correlated with initiation carbimazole as anti-thyroid medication. The conjugated hyperbilirubinemia, liver enzymes and International Normalised Ratio (INR) were gradually improved with normalization by eight weeks. This case has been reported to illustrate lessons learnt for early identification of neonate with hyperthyroidism as potential cause of cholestasis is important, because delayed treatment of hyperthyroidism might lead to irreversible consequences such as mental retardation or even death due to liver failure.

Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea.

Despite the usual typical presentation, congenital chloride diarrhea (CCD) poses multiple diagnostic challenges. It has an incidence of 1/5000 in Saudi Arabia. CCD can mimic intestinal obstruction and result in avoidable surgical interventions. Contributing factors are abdominal distension and the watery (urine-like) diarrhea that is often interpreted as delayed passage of meconium. Surgical interventions would unnecessarily increase the morbidity. Therefore, a high index of suspicion and educating neonatologists, general pediatricians, and pediatric surgeons regarding this diagnostic entity is essential. Here we describe five such cases.

A Case Report of Childhood Recurrent Autoimmune Pancreatitis: A Rare Emerging Entity.

Autoimmune pancreatitis (AIP) is a rare entity in the paediatric population and its aetiology is unknown. Here, we report a 10-year-old girl with recurrent abdominal pain. A diagnosis of AIP was made based on elevated pancreatic enzymes, elevated IgG 4 and image findings. She responded to corticosteroid treatment. AIP should be considered in the differential diagnosis of recurrent pancreatitis. Correct diagnosis can help avert the consequences of progressive disease and unnecessary surgery.

Characteristics of Pediatric Crohn's Disease in Saudi Children: A Multicenter National Study.

Background and Aims. Crohn's disease (CD) is an evolving disease in KSA. Little is known about its characteristics in the Saudi population. The aims of this study were to describe the characteristics of Saudi children with CD and to determine whether the characteristics of CD in KSA are different from those seen in Western countries. Methods. In this study, children younger than eighteen years of age diagnosed with CD between January 2003 and December 2012 were included. Results. Of 330 patients identified, 186 (56.4%) were males. The median age at diagnosis was 15.8 years. A positive family history for IBD in first-degree relatives occurred in 13.6% of patients. The most common symptoms were abdominal pain (84.2%), weight loss (75.2%), and diarrhea (71.8%). The main disease location was ileocolonic (42.1%) and the main disease behavior was nonstricturing and nonpenetrating (63.6%). Perianal involvement was seen in 60 (18.2%) patients. Laboratory findings revealed anemia in 57.9% of patients, low albumin in 34.5%, and high CRP in 39.4%. Conclusions. Saudi children with CD have lower frequency of first-degree relatives with IBD, lower prevalence of early onset disease, longer diagnostic delay, higher prevalence of growth failure, and greater frequency of stricturing and penetrating disease behavior compared to Western patients.

Clinical Pattern of Early-Onset Inflammatory Bowel Disease in Saudi Arabia: A Multicenter National Study.

BACKGROUND: The objectives of this multicenter national study were to compare the clinical phenotype of early-onset inflammatory bowel disease (IBD) (EO-IBD) with IBD in older children and to examine whether there is any variability in consanguinity rate and familial aggregation in EO-IBD compared with later onset IBD. METHODS: A retrospective analysis was performed on children aged 0 to 14 years with IBD in 17 centers located in geographically distinct regions in Saudi Arabia, from 2003 to 2012. Data of patients with EO-IBD (0 to <6 yrs) were compared with those with later onset IBD (6-14 yrs). Moreover, we evaluated differences in clinical pattern of infantile or toddler onset IBD subgroup (0-3 yr) as compared with those presenting in older children. RESULTS: Of 352 IBD patients identified during the 10-year study period, 76 children (21.6%) younger than 6 years were diagnosed with IBD. Among the Crohn's disease (CD) group, infantile or toddler onset CD subgroup showed a more frequent isolated colonic involvement (L2) than later-onset group (57% versus 20%; P = 0.002). Positive family history was significantly more common in the infantile or toddler onset ulcerative colitis subgroup (29.4% versus 4.2% in later onset ulcerative colitis; P < 0.0001). The consanguinity rate was significantly higher in the infantile or toddler onset CD subgroup as compared with later onset CD group (57.1% versus 25.3%; P = 0.04). CONCLUSIONS: In conclusion, EO-IBD exhibits a unique clinical phenotype with a strikingly higher familial aggregation in early-onset ulcerative colitis. Our data suggest a significant genetic impact on the onset of CD in the very young children.