{"title":"Frequency and management of rod fractures following minimally invasive bipolar fusionless surgery in neuromuscular scoliosis patients","authors":"","doi":"10.1016/j.arcped.2024.04.004","DOIUrl":"10.1016/j.arcped.2024.04.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Neuromuscular scoliosis (NMS) is associated with an abnormal muscle tone. Traditional conservative treatments, with the historical practice of early posterior fusion, have proven ineffective. Recently, growth-sparing techniques have gained traction owing to their ability to maximize trunk height. However, these techniques have a substantial risk of complications, particularly rod breakage, with reported incidence rates ranging from 15 % to 42 %. The objective of this study was to conduct a descriptive analysis of NMS patients who experienced rod breakage following the minimally invasive fusionless surgery (MIFS) technique.</div></div><div><h3>Methods</h3><div>This was a single-center, retrospective study that included all NMS patients who underwent surgery between January 2015 and January 2021 and subsequently presented with rod breakage after MIFS. The MIFS technique is based on proximal fixation with double hook claws made of pedicular and -sus laminar hooks and pelvic fixation with iliosacral screws.</div></div><div><h3>Results</h3><div>The mean follow-up was 5.2 ± 2.2 years. The mean dominant etiology of NMS was cerebral palsy<span> (67 %). Of the 217 patients who underwent surgery, 15 (6.9 %) developed rod breakage. Rod breakage occurred 2.7 ± 1.3 years after the initial surgery. Four cases of rod fracture recurrence were reported in ambulatory patients with dystonia or hyperactivity.</span></div></div><div><h3>Conclusion</h3><div>Compared with other fusionless techniques, the minimally invasive bipolar technique appears promising for patients with NMS, with a lower rate of rod breakage. We recommend the use of a four-rod construct for ambulatory patients or for those with dystonia or hyperactivity.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Nutritional rickets: Refusing to turn back the clock","authors":"","doi":"10.1016/j.arcped.2024.07.001","DOIUrl":"10.1016/j.arcped.2024.07.001","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142116907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"An unusual case of 17-hydroxylase deficiency presenting with short stature","authors":"","doi":"10.1016/j.arcped.2024.03.007","DOIUrl":"10.1016/j.arcped.2024.03.007","url":null,"abstract":"<div><div><span>17α-Hydroxylase and 17,20-lyase are enzymes encoded by the </span><span><span>CYP17A1</span></span><span><span><span> gene and are necessary for the production of cortisol and sex steroids. Females with 17α-hydroxylase deficiency usually present with </span>primary amenorrhea<span><span> and delayed puberty<span> accompanied by hypertension and electrolyte imbalance<span>. Here, we report the case of a 14-year-old female patient who presented with severe short stature and delayed puberty without any complaint suggestive of 17-hydroxylase </span></span></span>enzyme deficiency. </span></span>Laboratory test<span><span><span><span> results showed low cortisol and </span>dehydroepiandrosterone sulfate<span> (DHEA-S) along with high luteinizing hormone (LH) and follicle-stimulating hormone (FSH). </span></span>Turner syndrome was excluded after </span>genetic analysis showed a 46,XX karyotype, and 17α-hydroxylase deficiency was diagnosed by detecting a c.1319G>A (p.Arg440His) variation/alternation in the patient's </span></span><span><em>CYP17A1</em></span> gene.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Indications for extensively hydrolyzed cow's milk protein in the neonatal period","authors":"","doi":"10.1016/j.arcped.2024.03.006","DOIUrl":"10.1016/j.arcped.2024.03.006","url":null,"abstract":"<div><div>A large proportion of prescriptions for extensively hydrolyzed cow's milk protein (CMP) in newborns are not based on any scientific data justifying the indication. Many of these prescriptions are old habits or are based on incomplete data. The aim of this article is to analyze these practices and propose recommendations. The following points are covered: (a) indications for extensively hydrolyzed formula based on studies demonstrating their benefits in these situations—newborns with a proven allergy to CMP and occasional prescription of supplements to breastfeeding; (b) possible indications not based on a high level of evidence—re-initiation of feeding due to necrotizing enterocolitis, short bowel syndrome, re-initiation of feeding of newborns following intestinal surgery, and laparoschisis if neither the mother's own milk nor milk from a lactarium is available; (c) unjustified indications—newborns at risk of atopy, prematurity, severe neurological pathologies, newborns who are hemodynamically unstable and/or have congenital cardiopathy, neonatal hypoxic–ischemic encephalopathy treated with hypothermia, and newborns with esophageal atresia or diaphragmatic hernia. By following this classification, the prescriber will be guided to use the milk best suited to the pathology, bearing in mind that each situation must be adapted individually and the tolerance and effectiveness of the food reassessed from a nutritional and functional point of view.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Selection of a probiotic to prevent necrotizing enterocolitis for preterm infants in a French neonatology department","authors":"","doi":"10.1016/j.arcped.2024.03.008","DOIUrl":"10.1016/j.arcped.2024.03.008","url":null,"abstract":"<div><div>Very premature and/or low-birth-weight infants are at risk of developing necrotizing ulcerative enterocolitis (NEC). Prophylactic use of probiotics would change the composition of the gut microbiota and thus reduce the risk of NEC. In order to choose a probiotic at the local level, international recommendations were compared, and the available specialties were listed. Discrepancies between the different recommendations appeared, and the great variability of infant specialties available, as well as their status, did not allow us to select one. The local objective will therefore be to participate in the discussion of this subject at a national level.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0929693X24000903/pdfft?md5=6db236d52da227c28e930f94886aecd0&pid=1-s2.0-S0929693X24000903-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141617725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effects of vanilla odor on hypoxia-related periodic breathing in premature newborns: A pilot study","authors":"","doi":"10.1016/j.arcped.2024.03.002","DOIUrl":"10.1016/j.arcped.2024.03.002","url":null,"abstract":"<div><h3>Background</h3><div>Periodic breathing (PB)-related intermittent hypoxia<span> can have long-lasting deleterious consequences in preterm infants. Olfactory stimulation using vanilla odor is beneficial for apnea of prematurity<span> in the first postnatal days/weeks. We aimed to determine for the first time whether vanilla odor can also decrease PB-related intermittent hypoxia.</span></span></div></div><div><h3>Method</h3><div><span>This pilot study was a balanced crossover clinical trial including 27 premature infants born between 30 and 33</span><sup>+6</sup><span><span> weeks of gestation. We performed 12-h recordings on two nights separated by a 24-h period. All infants were randomly exposed to vanilla odor on the first or second study night. The primary outcome was the </span>desaturation<span> index, defined as the number per hour of pulse oximetry (SpO</span></span><sub>2</sub>) values <90 % for at least 5 s, together with a drop of ≥5 % from the preceding value. Univariate mixed linear models were used for the statistical analysis.</div></div><div><h3>Results</h3><div><span>Overall, exposure to vanilla odor did not significantly decrease the desaturation index (52 ± 22 events/h [mean ± SD] on the intervention night vs. 57 ± 26, </span><em>p</em> = 0.2); furthermore, it did not significantly alter any secondary outcome. In a preliminary post hoc subgroup analysis, however, the effect of vanilla odor was statistically significant in infants with a desaturation index of ≥70/h (from 86 ± 12 to 65 ± 23, <em>p</em> = 0.04).</div></div><div><h3>Conclusion</h3><div>In this pilot study, vanilla odor overall did not decrease PB-related intermittent hypoxia in infants born at 30–33<sup>+6</sup> weeks of gestation, which is when they are close to term. Preliminary results suggesting a beneficial effect in infants with the highest desaturation index, however, justify further studies in the presence of PB-related intermittent hypoxia as well as in infants born more prematurely.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141319096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience","authors":"","doi":"10.1016/j.arcped.2024.03.005","DOIUrl":"10.1016/j.arcped.2024.03.005","url":null,"abstract":"<div><h3>Aim</h3><div><span><span>Congenital hypothyroidism (CH) is the most common </span>endocrine disorder<span> of the newborn; it is seen in every 3000–4000 births. </span></span>Genetic features can guide treatment for patients with in situ glands. The present study aimed to contribute to the literature on CH variants and to show the benefit that genetic analysis can provide to patients in follow-up.</div></div><div><h3>Method</h3><div>A total of 52 patients (47 families) diagnosed with CH were included in the study. Overall, 32 target genes involved in thyroid physiology were investigated by next-generation sequencing (NGS).</div></div><div><h3>Results</h3><div>In total, 29 (55 %) of the patients were male, and the rate of dysgenesis was 19.2 %. In this study, 29 of 52 patients had at least one variant in one gene involved in CH (<em>n</em> = 29, 33 different variants) (Including likely benign variants and variants of unknown significance). There were 21 patients (40.3 %) with gland in situ. The most common variant was <span><span>DUOX2</span></span> (20 %). The second most common variants were those in the <span><span>TPO</span></span> and <span><span>TG</span></span><span> genes (15 % and 15 %, respectively); 41.1 % of these were variants of uncertain significance (VUS), 26.4 % were pathogenic, 23.5 % were likely benign, and 11.7 % were likely pathogenic. On the basis of their zygosity, we identified 73.5 % heterozygous, 17.6 % homozygous, and 8.9 % combined heterozygous variants. There were mutant variants in two genes in six patients and three in one patient.</span></div></div><div><h3>Conclusion</h3><div>This study found a variant in 55 % of the patients and shed light on the etiology of some cases of CH. The frequency of VUS was high. Although variants were identified in this study, their implication in the etiology of CH is not certain and, for most of the patients, it is also not sufficient for explaining the pathology with the current state of knowledge.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Juvenile hallux valgus: Comparison of three types of osteotomy and medium-term postoperative results","authors":"","doi":"10.1016/j.arcped.2024.04.005","DOIUrl":"10.1016/j.arcped.2024.04.005","url":null,"abstract":"<div><h3>Background</h3><div>There is no consensus on the treatment of juvenile hallux valgus<span> (JHV). Numerous surgical techniques have been described, none of which has been proven to be superior and the mid-term results of these methods are not well known. Our objective was to compare the mid-term clinical, radiographic, and functional results of three metatarsal osteotomy techniques.</span></div></div><div><h3>Methods</h3><div>Patients under 18 years of age operated on for JHV between January 2010 and December 2019 were included in this multicenter retrospective study. Patients were excluded if they had non-idiopathic hallux valgus or if their postoperative follow-up was less than 3 years. The surgical techniques used were metatarsal osteotomies: basimetatarsal, scarf, or distal. During follow-up visits, we collected HMIS-AOFAS (Hallux Metatarsophalangeal Interphalangeal Scale–American Orthopedic<span> Foot and Ankle Society) and Visual Analogue Scale<span> (VAS) scores, acquired radiographs, and recorded complications and recurrences. Secondarily, the study population was stratified according to physis status (open vs. closed).</span></span></div></div><div><h3>Results</h3><div>During the study period, 18 patients (26 feet) met the inclusion criteria. The median postoperative follow-up was 6.5 (4.1) years. At the end of follow-up, the median HMIS score was 79.0 (20.0), the mean hallux valgus angle (HVA) improvement was 13.2° (16.8), and the complication and recurrence rates were 31 % and 23 %, respectively. There was no significant difference in the outcome measures between the three techniques or any difference according to physis status at the time of surgery.</div></div><div><h3>Discussion and conclusion</h3><div>The functional and radiographic results of metatarsal osteotomies are good in the medium term, regardless of the osteotomy site. Our results are comparable to those published in the literature. As our sample size was limited, it did not lead to the identification of statistically significant differences.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Long-acting growth hormone in the management of GHD in France","authors":"","doi":"10.1016/j.arcped.2024.03.009","DOIUrl":"10.1016/j.arcped.2024.03.009","url":null,"abstract":"<div><div>Approximately 10,000 children in France with growth hormone deficiency (GHD) are being administered daily recombinant human growth hormone (rhGH). Although this treatment has long proved efficient for restoring children's growth and metabolism, daily injections of rhGH have a few limitations, such as difficulties in terms of adherence to treatment, which may compromise growth during childhood but also metabolism in adulthood. In addition to the disease burden and besides the adherence hurdles, the obligations related to daily injection have a negative impact on the quality of life of patients and their families. The hypothesis that injections administered at intervals of 1 week, or even 1 month, could improve compliance, reduce treatment discontinuations, and optimize quality of life and therapeutic effectiveness has led to the emergence of new long-acting growth hormone (LAGH). Recent access to LAGHs (somatrogon MA) on the European and French market will likely be followed by a high demand from the families concerned and may raise questions on their effectiveness, safety, and practical use. Numerous practical and practice-related points are needed to guide prescribing physicians while many concerns are still left unresolved (treatment effectiveness or ineffectiveness endpoints, long-term effectiveness, etc.). These issues can only be addressed in the future by compiling registries and conducting long-term real-world studies.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Omayma Khadiri, Rim Kaoua, Maryam Aboudourib, Said Amal, Ouafa Hocar
{"title":"An atypical form of pediatric pityriasis rosea of the diaper area: Pityriasis marginata et circinata of Vidal","authors":"Omayma Khadiri, Rim Kaoua, Maryam Aboudourib, Said Amal, Ouafa Hocar","doi":"10.1016/j.arcped.2024.02.003","DOIUrl":"10.1016/j.arcped.2024.02.003","url":null,"abstract":"<div><p>Pityriasis rosea is a common, self-limited disease which in its typical form should not raise diagnostic doubts. Nevertheless, its atypical presentations can be a challenge for the clinician, and hence it is important to be aware of them. Recognition of these forms may enable a correct diagnosis to be made and avoid unnecessary procedures. We present two patients for whom we believe atypical PR was the most likely the diagnosis.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141094706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}