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Ali Al Ahmari,Osama Alsmadi,Atia Sheereen,Tanziel Elamin,Amal Jabr,Lina El-Baik,Safa Alhissi,Bandar Al Saud,Moheeb Al-Awwami,Ibrahim Al Fawaz,Mouhab Ayas,Khawar Siddiqui,Abbas Hawwari 대한혈액학회 2021 Blood Research Vol.56 No.2
Background Our study was designed to investigate the frequencies and distributions of familial hemophagocytic lymphohistiocytosis (FHL) associated genes in Saudi patients. Methods FHL associated gene screening was performed on 87 Saudi patients who were diagnosed with hemophagocytic lymphohistiocytosis (HLH) between 1995 and 2014. The clinical and biochemical profiles were also retrospectively captured and analyzed. Results Homozygous mutations and mono-allelic variants were identified in 66 (75.9%) and 3 (3.5%) of the study participants, respectively. STXBP2 was the most frequently mutated gene (36% of patients) and mutations in STXBP2 and STX11 accounted for 58% of all FHL cases and demonstrated a specific geographical pattern. Patients in the FHL group presented at a significantly younger age than those belonging to the unknown-genetics group (median, 3.9 vs. 9.4 mo; P=0.005). The presenting clinical features were similar among the various genetic groups and the 5-year overall survival (OS) was 55.4% with a 5.6 year median follow-up. Patients with PRF1 mutations had a significantly poorer 5-year OS (21.4%, P =0.008) and patients undergoing hematopoietic stem cell transplant (72.4%) had a significantly better 5-year OS (66.5% vs. 0%, P =0.001). Conclusion Our study revealed the predominance of the STXBP2 mutations in Saudi patients with FHL. A genetic diagnosis was possible in 80% of the cohort and our data showed improved survival in FHL patients who underwent hematopoietic stem cell transplant.
Yvan Vandenplas,Muath Abdurrahman Alturaiki,Wafaa Al-Qabandi,Fawaz AlRefaee,Ziad Bassil,Bassam Eid,Ahmed El Beleidy,Ali Ibrahim Almehaidib,Pierre Mouawad,Maroun Sokhn 대한소아소화기영양학회 2016 Pediatric gastroenterology, hepatology & nutrition Vol.19 No.3
This paper covers algorithms for the management of regurgitation, constipation and infantile colic in infants. Anti-re-gurgitation formula may be considered in infants with troublesome regurgitation, while diagnostic investigations or drug therapy are not indicated in the absence of warning signs. Although probiotics have shown some positive evi-dence for the management of functional gastrointestinal disorders (FGIDs), the evidence is not strong enough to make a recommendation. A partially hydrolyzed infant formula with prebiotics and β-palmitate may be considered as a dietary intervention for functional constipation in formula fed infants. Lactulose has been shown to be effective and safe in infants younger than 6 months that are constipated. Macrogol (polyethylene glycol, PEG) is not approved for use in infants less than 6 months of age. However, PEG is preferred over lactulose in infants >6 months of age. Limited data suggests that infant formula with a partial hydrolysate, galacto-oligosaccharides/fructo-oligosac-charides, added β-palmitate may be of benefit in reducing infantile colic in formula fed infants in cases where cow’smilk protein allergy (CMPA) is not suspected. Evidence suggests that the use of extensively hydrolyzed infant formula for a formula-fed baby and a cow’s milk free diet for a breastfeeding mother may be beneficial to decrease infantile colic if CMPA is suspected. None of the FGIDs is a reason to stop breastfeeding.
Vandenplas, Yvan,Alturaiki, Muath Abdurrahman,Al-Qabandi, Wafaa,AlRefae, Fawaz,Bassil, Ziad,Eid, Bassam,El Beleidy, Ahmed,Almehaidib, Ali Ibrahim,Mouawad, Pierre,Sokhn, Maroun The Korean Society of Pediatric Gastroenterology 2016 Pediatric gastroenterology, hepatology & nutrition Vol.19 No.3
This paper covers algorithms for the management of regurgitation, constipation and infantile colic in infants. Anti-regurgitation formula may be considered in infants with troublesome regurgitation, while diagnostic investigations or drug therapy are not indicated in the absence of warning signs. Although probiotics have shown some positive evidence for the management of functional gastrointestinal disorders (FGIDs), the evidence is not strong enough to make a recommendation. A partially hydrolyzed infant formula with prebiotics and ${\beta}$-palmitate may be considered as a dietary intervention for functional constipation in formula fed infants. Lactulose has been shown to be effective and safe in infants younger than 6 months that are constipated. Macrogol (polyethylene glycol, PEG) is not approved for use in infants less than 6 months of age. However, PEG is preferred over lactulose in infants >6 months of age. Limited data suggests that infant formula with a partial hydrolysate, galacto-oligosaccharides/fructo-oligosaccharides, added ${\beta}$-palmitate may be of benefit in reducing infantile colic in formula fed infants in cases where cow's milk protein allergy (CMPA) is not suspected. Evidence suggests that the use of extensively hydrolyzed infant formula for a formula-fed baby and a cow's milk free diet for a breastfeeding mother may be beneficial to decrease infantile colic if CMPA is suspected. None of the FGIDs is a reason to stop breastfeeding.