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We describe the first case of bridge therapy in alpha‐mannosidosis (AM) in an infant diagnosed at only 5 months of life who underwent enzyme replacement therapy (ERT) in the pre‐ and peri‐transplant phases. Eight ERT infusions were administered before hematopoietic stem cell transplantation (HSCT) and continued for additional 90 days until complete engraftment. The clinical and laboratory data after 3 years post‐HSCT show that the early combined intervention may reduce the disease progression and the urine and plasma content of mannosyl‐oligosaccharides (OS) monitored by liquid chromatography tandem mass spectrometry (LC–MS/MS). This report highlights that early diagnosis and prompt initiation of such treatments in AM are the best chance to minimize the progression of symptoms. [ABSTRACT FROM AUTHOR]

Aim: It is still unclear if the magnitude of early postnatal weight loss (PWL) could be associated with neurodevelopmental outcomes in preterm infants. We studied the association between PWL and neurodevelopment at 2‐year corrected age in preterm infants. Methods: We retrospectively reviewed data of preterm infants with a gestational age between 24 + 0 and 31 + 6 weeks/days, admitted at the G.Salesi Children's Hospital, Ancona, Italy, between 1 January 2006 and 31 December 2019. Infants with PWL greater than or equal to 10% (PWL ≥ 10%) were compared with those with PWL of less than 10% (PWL < 10%). A matched cohort analysis was also performed using gestational age and birth weight as matching variables. Results: We analysed 812 infants: 471 (58%) PWL ≥ 10% and 341 (42%) PWL < 10%. A subgroup of 247 PWL ≥ 10% was closely match‐paired with 247 PWL < 10% infants. There were no differences in amino acid and energy intakes from birth to day 14 of life and from birth to 36 weeks. Although at 36 weeks, body weight and total length were lower in PWL ≥ 10% than PWL < 10%, anthropometry and neurodevelopment at 2 years were similar between groups. Conclusion: Given similar amino acid and energy intakes on PWL ≥ 10% and PWL < 10% preterm infants of less than 32 + 0 weeks/days, PWL does not affect 2‐year neurodevelopment. [ABSTRACT FROM AUTHOR]

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder caused by the deficiency of α‐L‐iduronidase and characterized by a progressive course with multisystem involvement. Clinically, MPS I is divided into two forms: (1) severe (Hurler syndrome), which presents in infancy and is characterized by rapid progressive neurological involvement; (2) attenuated (Hurler/Scheie and Scheie syndromes), which displays a slower progression and absent to mild nervous system involvement. The specific treatment for attenuated MPS I consists of enzyme‐replacement therapy with laronidase (human recombinant α‐L‐iduronidase, Aldurazyme). We present updated data after 18 years of laronidase treatment in two siblings affected by the attenuated form of MPS I who started therapy at 5 months and 5 years of age, respectively. Clinical and laboratory data of the siblings show that long‐term enzyme replacement therapy may improve/stabilize many symptoms already present at the time of the diagnosis and reduce the disease progression. This study confirms that early diagnosis and early initiation of enzyme‐replacement therapy are essential to modify positively the natural history of the attenuated form of MPS I. [ABSTRACT FROM AUTHOR]

Background and Aim: Human leukocyte antigen (HLA)‐DQ2 and/or ‐DQ8 is an essential risk factor for celiac disease (CD). About 90–95% of patients with CD carry HLA‐DQ2/‐DQ8 alleles, and HLA‐DQ typing is considered an additional diagnostic test. Conventional polymerase chain reaction (PCR)‐based HLA‐DQ typing methods are expensive, complex, and a time‐consuming process. We assessed the efficacy of a novel HLA‐DQ typing method, "Celiac Gene Screen," for the detection of CD‐associated HLA haplotypes. Methods: To assess the diagnostic performance of the Celiac Gene Screen test, 100 ethylenediaminetetraacetic acid (EDTA) blood samples, already characterized by the conventional HLA‐DQ typing method, that is, PCR sequence‐specific oligonucleotide probes (PCR‐SSOP), a concordance between both the methods were explored. For validity, a further 300 EDTA blood samples with unknown HLA‐DQ status were genotyped using the Celiac Gene Screen test, including 141 samples from CD, 56 first‐degree relatives (FDRs) of CD and 103 samples from controls. Results: Of the 100 samples with known status of HLA‐DQ alleles, 79 samples were HLA‐DQ2 and/or ‐DQ8 positive, and 21 samples were HLA‐DQ2 and/or ‐DQ8 negative by conventional PCR. These 100 samples were re‐typed using the Celiac Gene screen kit; all 79 positives were typed positive, and 21 negatives were typed negative for HLA‐DQ alleles. Among 300 samples with unknown HLA‐DQ status, 118 of 141 (84%) patients with CD, 48 of 56 (86%) FDRs of CD, and 52 of 103 (50%) controls typed positive for HLA‐DQ alleles. Conclusions: The Celiac Gene Screen HLA‐DQ typing method showed excellent concordance with the conventional HLA‐DQ typing method and could be a cost‐reducing and effective method for CD‐associated HLA screening. Validation of a novel HLA DQ typing method was performed and compared with conventional HLA DQ trping method (SSOP‐PCR). Our study showed an excellent concordance between both the methods. We conclude our Method is suitable for CD screening studies and at‐risk groups. [ABSTRACT FROM AUTHOR]