Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.

Mucopolysaccharidosis type I Hurler (MPSIH) is characterized by severe and progressive skeletal dysplasia that is not fully addressed by allogeneic hematopoietic stem cell transplantation (HSCT). Autologous hematopoietic stem progenitor cell-gene therapy (HSPC-GT) provides superior metabolic correction in patients with MPSIH compared with HSCT; however, its ability to affect skeletal manifestations is unknown. Eight patients with MPSIH (mean age at treatment: 1.9 years) received lentiviral-based HSPC-GT in a phase 1/2 clinical trial (NCT03488394). Clinical (growth, measures of kyphosis and genu velgum), functional (motor function, joint range of motion), and radiological [acetabular index (AI), migration percentage (MP) in hip x-rays and MRIs and spine MRI score] parameters of skeletal dysplasia were evaluated at baseline and multiple time points up to 4 years after treatment. Specific skeletal measures were retrospectively compared with an external cohort of HSCT-treated patients. At a median follow-up of 3.78 years after HSPC-GT, all patients treated with HSPC-GT exhibited longitudinal growth within WHO reference ranges and a median height gain greater than that observed in patients treated with HSCT after 3-year follow-up. Patients receiving HSPC-GT experienced complete and earlier normalization of joint mobility compared with patients treated with HSCT. Mean AI and MP showed progressive decreases after HSPC-GT, suggesting a reduction in acetabular dysplasia. Typical spine alterations measured through a spine MRI score stabilized after HSPC-GT. Clinical, functional, and radiological measures suggested an early beneficial effect of HSPC-GT on MPSIH-typical skeletal features. Longer follow-up is needed to draw definitive conclusions on HSPC-GT's impact on MPSIH skeletal dysplasia.

Unveiling dysplasia epiphysealis hemimelica (Trevor's disease) in the foot and ankle: A systematic review.

Background: Dysplasia epiphysealis hemimelica is a rare non-inherited condition characterized by the unilateral predominance of osteochondromas in one or more epiphyses, with ankles and knees being the most affected joints. Treatment approaches vary based on the localization of the disease, encompassing both conservative and surgical options. Due to its rarity, there is a lack of definitive surgical guidelines or specific treatment modalities. Therefore, the objective of this systematic review was to thoroughly investigate dysplasia epiphysealis hemimelica to provide evidence-based guidance for managing this condition, specifically focusing on the foot and ankle. Methods: A systematic search was performed on PubMed and the Cochrane Library to identify all published articles related to dysplasia epiphysealis hemimelica of the foot and ankle. Individual patient information, such as gender, age, disease type, follow-up, localization, clinical presentation, intervention, and complications, were systematically extracted from each article and analyzed. Results: Twenty-five eligible publications were included in the review, involving a total of 70 patients (16 females, 53 males). The mean age was 9.6 years (SD 7.3). The talus was the most prevalent location and clinical presentations included mass and pain in 54% of cases. Surgical procedures were chosen in 92% of patients, with 95% undergoing mass excision. Recurrence was the most frequent complication, observed in 9% of cases. Conclusions: Raising awareness about dysplasia epiphysealis hemimelica is crucial for early diagnosis and treatment, positively impacting clinical outcomes. Vigilant monitoring is essential during observational management, as unchecked mass growth can complicate surgical intervention. Surgical treatment focuses on mass excision, feasible even at a young age but requiring precision to prevent recurrence or secondary arthritis. Level of evidence: IV.

Transinguinal Ultrasound versus Magnetic Resonance in Spica Cast after Closed Reduction of Unstable Hips in DDH.

BACKGROUND: During the treatment of unstable hips in developmental hip dysplasia (DDH), the position of the femoral head must be assessed in spica cast (SC) after reduction. A transinguinal sonographic technique (TIT) to the hip joint has been previously described in the literature. The aim of this study is to evaluate the agreement among TIT and MR to identify hip reduction. METHODS: From 2016 to 2019, 14 consecutive newborns (10 female, 4 males) with a mean age of 2.97 ± 1.29 months were treated with closed reduction in SC. A total of 4/14 children had bilateral unstable DDH. Out of 18 hips, there were 8 hips type IV and 10 hips type IIIA, according to Graf. SC were changed monthly and hips were checked both with TIT and MR, looking for persistent dislocation. RESULTS: Overall, a mean of 2.61 SC/hip (mode = 3) was accomplished, accounting for 47 procedures, with 46 reduced hips and 1 dislocated hip: TIT and MR always agreed on the same result (47/47; Cohen k = 1, CI95 1.00 to 1.00). CONCLUSIONS: The inguinal ultrasound technique described by van Douveren showed perfect agreement with MR and might be considered a reliable alternative to check the position of the femoral head during the conservative treatment of hip dysplasia in spica cast.

Resection of Calcaneonavicular and Talocalcaneal Coalitions With Surgical Correction of the Hindfoot Valgus Deformity in One Step.

Background: Calcaneonavicular (CNC) and talocalcaneal (TCC) coalitions are the most common cause of rigid flatfoot in children. After resection, correction of the most frequent valgus-hindfoot deformity usually requires a second-step surgery. We report results of a retrospective study of patients treated with a one-step correction. Methods: Between 2008 and 2019, data were collected on 26 patients (19 male, 7 female) affected by CNC (n = 18) and TCC (n = 13), all with rigid symptomatic flatfeet. Average age at surgery was 12.5 ± 1.1 (SD) years (range, 9.8-15.2). All patients (26/26) underwent resection, 20 of 26 underwent at the same time subtalar extraarticular screw arthroereisis (SESA) for correction of residual hindfoot valgus deformity. Pre- and postoperative talocalcaneal angle according to Costa Bartani and Talar inclination angle in weightbearing were measured. Twenty-five of 26 patients had postoperative American Orthopaedic Foot & Ankle Society (AOFAS) ankle-hindfoot score. Results: Pre- and postoperative talocalcaneal average angle for CNC was respectively 141.5 ± 7.7 degrees and 130.5 ± 5.2 degrees (P < .0001) and 143.7 ± 7.7 degrees and 129.7 ± 7.0 degrees (P < .0001) for TCC. Talar inclination average angle for CNC was 29.2 ± 5.3 degrees and 19.3 ± 1.6 degrees (P < .0001) and 31.2 ± 6.4 degrees and 21.4 ± 3.4 degrees (P < .0001) for TCC. Average follow-up (FU) was 4.7 ± 3.0 years (range, 6 months-11.9 years, median 4.9 years), with a mean age at FU of 17.2 ± 5.8 (SD) years (min 12.1, max 25.3, median 16.8 years). The mean AOFAS ankle-hindfoot score for CNC and for TCC was 96.6 (range 83-100) for resection and valgus correction as one-step procedure with no statistical difference (P = .5) between CNC and TCC. No patients had additional surgery for complications or recurrence. Conclusion: Symptomatic rigid flatfeet affected by CNC and TCC treated with coalition resection and minimally invasive subtalar arthroereisis (SESA) for residual hindfoot valgus correction in one step in adolescent age achieved good to excellent results in all cases. Further surgery to correct malalignment was avoided. Level of Evidence: Level IV, retrospective study.

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.

PIK3CA-related disorders encompass many rare and ultra-rare conditions caused by somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is essential for cell cycle control. PIK3CA-related disorders include PIK3CA-related overgrowth spectrum (PROS), PIK3CA-related vascular malformations and PIK3CA-related non-vascular lesions. Phenotypes are extremely heterogeneous and overlapping. Therefore, diagnosis and management frequently involve various health specialists. Given the rarity of these disorders and the limited number of centers offering optimal care, the Scientific Committee of the Italian Macrodactyly and PROS Association has proposed a revision of the most recent recommendations for the diagnosis, molecular testing, clinical management, follow-up, and treatment strategies. These recommendations give insight on molecular diagnosis, eligible samples, preferable sequencing, and validation methods and management of negative results. The purpose of this paper is to promote collaboration between health care centers and clinicians with a joint shared approach. Finally, we suggest the direction of present and future research studies, including new systemic target therapies, which are currently under evaluation in several clinical trials, such as specific inhibitors that can be employed to downregulate the signaling pathway.

Combined unsupervised and semi-automated supervised analysis of flow cytometry data reveals cellular fingerprint associated with newly diagnosed pediatric type 1 diabetes.

An unbiased and replicable profiling of type 1 diabetes (T1D)-specific circulating immunome at disease onset has yet to be identified due to experimental and patient selection limitations. Multicolor flow cytometry was performed on whole blood from a pediatric cohort of 107 patients with new-onset T1D, 85 relatives of T1D patients with 0-1 islet autoantibodies (pre-T1D_LR), 58 patients with celiac disease or autoimmune thyroiditis (CD_THY) and 76 healthy controls (HC). Unsupervised clustering of flow cytometry data, validated by a semi-automated gating strategy, confirmed previous findings showing selective increase of naïve CD4 T cells and plasmacytoid DCs, and revealed a decrease in CD56brightNK cells in T1D. Furthermore, a non-selective decrease of CD3+CD56+ regulatory T cells was observed in T1D. The frequency of naïve CD4 T cells at disease onset was associated with partial remission, while it was found unaltered in the pre-symptomatic stages of the disease. Thanks to a broad cohort of pediatric individuals and the implementation of unbiased approaches for the analysis of flow cytometry data, here we determined the circulating immune fingerprint of newly diagnosed pediatric T1D and provide a reference dataset to be exploited for validation or discovery purposes to unravel the pathogenesis of T1D.

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that the idiopathic form of congenital clubfoot was rarely associated with mutations and CNVs on PITX1 and TBX4. Although in some patients, the disease was caused by mutations in both genes; they were responsible for only a tiny minority of cases, at least in the Italian population. It was not excluded that other genes belonging to the same TBX4-PITX1 axis were involved, even if genetic complexity at the origin of clubfoot required the involvement of other factors.

Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.

Common variable immunodeficiency (CVID) is the most frequent primary antibody deficiency whereby follicular helper T (Tfh) cells fail to establish productive responses with B cells in germinal centers. Here, we analyzed the frequency, phenotype, transcriptome, and function of circulating Tfh (cTfh) cells in CVID patients displaying autoimmunity as an additional phenotype. A group of patients showed a high frequency of cTfh1 cells and a prominent expression of PD-1 and ICOS as well as a cTfh mRNA signature consistent with highly activated, but exhausted, senescent, and apoptotic cells. Plasmatic CXCL13 levels were elevated in this group and positively correlated with cTfh1 cell frequency and PD-1 levels. Monoallelic variants in RTEL1, a telomere length- and DNA repair-related gene, were identified in four patients belonging to this group. Their blood lymphocytes showed shortened telomeres, while their cTfh were more prone to apoptosis. These data point toward a novel pathogenetic mechanism in CVID, whereby alterations in DNA repair and telomere elongation might predispose to antibody deficiency. A Th1, highly activated but exhausted and apoptotic cTfh phenotype was associated with this form of CVID.

Results of the Italian Pediatric Orthopedics Society juvenile flexible flatfoot survey: diagnosis and treatment options.

The objectives of this study were to collect and analyze current diagnosis and treatment options of symptomatic flexible flatfoot (FFF), as well as to identify treatment expectations, among the members of the Italian Pediatric Orthopedics Society (SITOP). Diagnosis and treatment preferences were recorded according to a web-based survey. The survey was divided into six main sections: (1) general clinical parameters; (2) foot aspects; (3) X-ray angles (or lines); (4) expectations; (5) standard clinical assessment; (6) treatment options. One hundred and ten out of 248 SITOP members answered to the questionnaire. Age (85.5%), pain at the level of the plantar arch or fascia (61.8%), fatigue (59.1%) were the clinical parameters of crucial importance. Heel valgus (85.4%), flexibility (61.8%) and forefoot supination (47.3%) were identified as the most important foot aspects. Ninety-two responders (83.6%) identified the 'improved ability to walk longer without symptoms or discomfort' as the principal treatment expectation. Pain evaluated through the visual analog scale (VAS) was considered crucial in 31.8% of cases. All respondents confirmed they also treat patients with FFF surgically; in particular, 97.3% of SITOP affiliates declare to perform arthroereisis followed by lateral column lengthening (29.1%) and medializing calcaneal osteotomy (9.1%). Although in this survey heterogeneous findings for diagnosis and treatment of patients with symptomatic FFF within SITOP members were found, a large preference for age, heel valgus, flexibility as clinical aspects and parameters, as well as nonoperative treatment and arthroereisis, was reported.

Exocrine pancreas function is impaired in adult relatives of patients with type 1 diabetes.

AIMS: Alterations of the exocrine pancreas have been reported in type 1 diabetes, but their contribution to the pathogenesis of the disease is poorly understood. Here, we investigated markers of exocrine pancreas dysfunction in individuals at-risk of developing type 1 diabetes. METHODS: Serum P-amylase and lipase levels were assessed in samples obtained from healthy controls, patients with new onset type 1 diabetes, relatives participating to the TrialNet Pathway to Prevention who were, at blood collection, autoantibody negative or positive for a single autoantibody (low-risk individuals), and positive for multiple autoantibodies (high-risk individuals). Linear mixed models were adopted to estimate variation of pancreatic enzymes among the groups and to evaluate the influence of high-risk HLA genotypes and residual beta cell function on exocrine pancreas function. RESULTS: In adults, but not children, reduced levels of P-amylase and lipase were shown in at-risk individuals, including (for P-amylase levels only) those at low-risk, and in T1Dnew. Furthermore, while high-risk HLA genotypes negatively affected P-amylase levels in autoantibody negative adult individuals, fasting C-peptide levels did not correlate with pancreatic enzyme levels. CONCLUSIONS: Exocrine pancreas dysfunction precedes the onset of type 1 diabetes in adult at-risk individuals and may be unrelated to fasting C-peptide levels.

Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series.

Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, predisposition to embryonal tumor, lateralized overgrowth, and leg length discrepancy (LLD), which can affect normal posture and gait. Aim of this study was to evaluate the effects of guided growth (temporary epiphysiodesis technique) as LLD management in BWS patients. Between 2007 and 2021, 22 BWS patients (15 F, 7 M) with a mean age of 7.9 years (2.9-14.4) and a mean LLD at first surgery of 3.65 cm (2-10), underwent temporary proximal tibial (PTE) and distal femur epiphysiodesis (DFE). In 18 patients the first surgical procedure was PTE, in one, DFE, and in 3 cases, PTE and DFE at the same time, respectively. Eleven patients reached equality of leg length after a mean follow-up of 7.7 years (3.7-13.0) and mean age of 13.3 years (12.7-27.5); 10 patients underwent 3 surgical procedures, one 7 procedures. Fifteen patients had no complications. No severe complications, infection, articular stiffness, or neuro-vascular lesions occurred in remaining patients; complications included secondary varus or valgus axial deviation in a total of 6 patients, and two screw breakages in two patients. Guided growth as a minimally invasive procedure seems efficient for LLD treatment with low complication rate in BWS patients.

Subtalar Arthroereisis for Surgical Treatment of Flexible Flatfoot.

Various surgical techniques are known for the treatment of flexible flatfoot in children after failure of nonsurgical attempts. Data collected in a review of the last 10-year period (2010-2020) show that among the 691 feet undergoing subtalar arthroereisis with endorthesis, average age at surgery was 11.40 years and in the 1856 feet that underwent subtalar arthroereisis with calcaneo-stop 11.69 years, while the complications rate was 9.00% and 6.38%, respectively. These data confirm that subtalar arthroereisis with calcaneo-stop may have an advantage over subtalar arthroereisis with endorthesis as the screw is not placed across the subtalar joint but instead into the calcaneus.

Surgical Treatment of Calcaneonavicular and Talocalcaneal Coalitions.

Tarsal coalition is determined by an absence of segmentation between one or more foot bones. The main symptom is activity-related foot pain, usually dorsolateral for calcaneonavicular coalitions and medial for talocalcaneal ones. At presentation, a symptomatic tarsal coalition must be treated conservatively for at least 6 months. If the conservative treatment fails and the foot is still painful, resection is the treatment of choice. Advantage of surgery is to restore mobility and reduce the risk of subsequent degenerative arthritis. Common pitfalls of surgery include failure to recognize associated coalitions, inadequate or extensive resection, and injury of adjoining bones.

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.

BACKGROUND: Allogeneic hematopoietic stem-cell transplantation is the standard of care for Hurler syndrome (mucopolysaccharidosis type I, Hurler variant [MPSIH]). However, this treatment is only partially curative and is associated with complications. METHODS: We are conducting an ongoing study involving eight children with MPSIH. At enrollment, the children lacked a suitable allogeneic donor and had a Developmental Quotient or Intelligence Quotient score above 70 (i.e., none had moderate or severe cognitive impairment). The children received autologous hematopoietic stem and progenitor cells (HSPCs) transduced ex vivo with an α-L-iduronidase (IDUA)-encoding lentiviral vector after myeloablative conditioning. Safety and correction of blood IDUA activity up to supraphysiologic levels were the primary end points. Clearance of lysosomal storage material as well as skeletal and neurophysiological development were assessed as secondary and exploratory end points. The planned duration of the study is 5 years. RESULTS: We now report interim results. The children's mean (±SD) age at the time of HSPC gene therapy was 1.9±0.5 years. At a median follow-up of 2.10 years, the procedure had a safety profile similar to that known for autologous hematopoietic stem-cell transplantation. All the patients showed prompt and sustained engraftment of gene-corrected cells and had supraphysiologic blood IDUA activity within a month, which was maintained up to the latest follow-up. Urinary glycosaminoglycan (GAG) excretion decreased steeply, reaching normal levels at 12 months in four of five patients who could be evaluated. Previously undetectable levels of IDUA activity in the cerebrospinal fluid became detectable after gene therapy and were associated with local clearance of GAGs. Patients showed stable cognitive performance, stable motor skills corresponding to continued motor development, improved or stable findings on magnetic resonance imaging of the brain and spine, reduced joint stiffness, and normal growth in line with World Health Organization growth charts. CONCLUSIONS: The delivery of HSPC gene therapy in patients with MPSIH resulted in extensive metabolic correction in peripheral tissues and the central nervous system. (Funded by Fondazione Telethon and others; ClinicalTrials.gov number, NCT03488394; EudraCT number, 2017-002430-23.).

Foot Macrodactyly Associated with Klippel-Trenaunay Syndrome.

Klippel-Trenaunay syndrome is a rare congenital malformation which may be associated with macrodactyly. The main problem is the need for custom-made shoes. We describe the case of a female newborn affected by Klippel-Trenaunay syndrome, with a larger and longer right foot; the difference increased progressively and, at 5 years of age, the right foot was 50% larger and 38% longer than the left one. Due to the progression of the deformity, reduction surgery was advised to reduce the foot's width. Resection of the second ray and 2nd cuneiform was performed. The result was excellent and there were no complications during a 10-year follow-up period with a decrease of width and length difference to 10% and 4%, respectively, in comparison to the contralateral foot. There were no gait anomalies. Abnormal foot width and length represented the main problems and guided the surgical strategy. Second ray resection was effective, without complications and with a good long-term functional outcome. Possibility of wearing fashionable conventional shoes without insoles was achieved to the patient's satisfaction.

Altered Frequency and Phenotype of HLA-G-Expressing DC-10 in Type 1 Diabetes Patients at Onset and in Subjects at Risk to Develop the Disease.

Type 1 diabetes (T1D) is a chronic autoimmune disease resulting in progressive destruction of ß-cells. Several factors affecting lymphocyte and antigen-presenting cells, including dendritic cells (DCs), contribute to defective maintenance of tolerance in T1D. DC-10 are a subset of human DCs involved in IL-10-mediated tolerance. A precise monitoring of DC-10 in the peripheral blood is possible thanks to the discovery of specific biomarkers. DC-10, being cells that naturally express HLA-G, may be used for the appropriate staging of the disease. By enumerating and phenotypically characterizing DC-10 in the peripheral blood of subjects at different stages of T1D development-first-degree relatives (FDRs) of T1D patients, without (Abneg) or with (Abpos) autoantibodies, T1D patients at onset, and age-matched healthy controls (HCs)-we showed that DC-10 contain a high proportion of HLA-G-expressing cells as compared with monocytes. We reported that a low frequency of DC-10 during disease development is paralleled with the increased proportion of pro-inflammatory cDC2 cells. Moreover, DC-10 number and phenotype differ from Abneg FDRs, Abpos FDRs, and T1D patients compared with HCs, and DC-10 from T1D patients express low levels of CD83. Finally, multiple regression analysis, considering DC-10 and HLA-G-related parameters, showed that Abneg FDRs are more similar to subjects with autoimmunity than to HCs. This is the first demonstration that impairment in DC-10 number and phenotype, specifically CD83 expression, is associated with risk of developing T1D, suggesting a possible use of CD83+ DC-10 to stratify individuals at risk of T1D in conjunction with classical prognostic factors.

Developmental dysplasia of the hip screening during the lockdown for COVID-19: experience from Northern Italy.

PURPOSE: Developmental dysplasia of the hip (DDH) ultrasound screening (USS), which is usually performed in Italy as an outpatient, was halted for an indefinite period in most centres during lockdown. The aim of this study was to analyze the effect of COVID-19 on DDH-USS, in two paediatric orthopaedic centres in one of the most critical areas of the western World. METHODS: An academic teaching hospital and paediatric trauma centre (T) and a University hospital and DDH referral centre (H), classified as national COVID-19 hubs, were involved. Graf's method was applied in both centres. In T, paediatricians directly referred only patients with delayed DDH-USS or suspicious unstable hips; in H, paediatricians or parents could directly refer to the screening service. RESULTS: The mean age of the 95 patients (190 hips) who were referred for DDH-USS in T, was 3.85 months (0.1 to 7.4); 175 were type I, nine were type IIa (+ and -), five type D and one type IV. In H, the screened patients in 2020 were only 78% of the same period in 2019. A total of 28 patients with 32 hips (8 IIb, 5 IIc, 8 D, 11 III) had late diagnosis at a mean age of 114 days (96 to 146). In the same period in 2019 only eight patients with 11 hips (8 IIb, 1 D, 1 III, 1 IV) at a mean age of 142 days (92 to 305) had late diagnosis. CONCLUSION: DDH-USS was the only screening in newborns which halted during lockdown. Few centres, which still performed diagnosis and treatment, were overloaded causing a delay in DDH management. LEVEL OF EVIDENCE: IV.

Surgical Treatment of Clubfoot in Children with Moebius Syndrome.

Moebius syndrome (MS) is a rare disease, with paralysis of the VI and VII cranial nerves, frequently associated with clubfoot (CF). The aim of this study was to evaluate surgical treatment of CF in MS, providing its peculiarities. Between 1990 and 2019, we collected data of 11 MS patients with unilateral (n = 5) or bilateral (n = 6) CF, for a total of 17 feet (9R,8L). Six patients (3M,3F) for a total of 10 feet (6R,4L) were treated elsewhere, performing first surgery at an average age of nine months, and in our hospital for relapse surgery at an average age of 4.5 years (Group 1). Five patients (3M, 2F), for a total of seven feet (3R,4L), were primarily treated in our hospital with a peritalar release according to McKay at an average age of 9.4 months (Group 2). Diméglio score was used to assess CF severity. Three questionnaires were submitted for evaluation of subjective and functional results: American Orthopedics Foot and Ankle Society for Hindfoot (AOFAS), Foot and Ankle Outcome Score (FAOS), and Foot and Ankle Ability Measure (FAAM). Average AOFAS/FAOS/FAMM scores were 82.8, 84.8, and 82.3 for Group 1, and 93.2, 94.7, and 95.1 for Group 2 at an average follow-up of 16.9 and 13.3 years, respectively. The average Diméglio score improved from 15.5 to 4.8 in the long-term follow-up in Group 1 and from 14.6 to 3.8 in Group 2. The comparison between the groups showed better results for AOFAS, FAOS, and FAAM scores for Group 2, particularly for pain, function, and foot alignment and for the post-surgical Diméglio score. CF in MS is more severe and presented a higher relapse rate (58.8%) than idiopathic CF. Peritalar release showed no relapse and better subjective and functional results in the long-term follow-up compared to other surgical techniques.

Double Diapering Ineffectiveness in Avoiding Adduction and Extension in Newborns Hips.

Hip flexion and abduction is fundamental for developmental dysplasia of the hip (DDH) treatment. At present, double diaper treatment has been inappropriately adopted when DDH is suspected. The aim of this study was to verify whether double diapers influence a newborn's hip position. Here, we studied 50 children (23 female; 27 male; average age 62.33 ± 20.50 days; average birth weight 3230 ± 447 g) with type I hips according to Graf. At the same time of the ultrasound (US) examination, the following hip positions were measured using a manual protractor: (1) spontaneous position, supine on the outpatient bed without a diaper; (2) spontaneous position, with a double diaper; and (3) squatting position on the caretakers' side. Statistical analysis was performed with a t-test to compare between (1) the spontaneous position without a diaper and with double diapers; (2) the spontaneous position with double diapers as well as the squatting position on the caretakers' side with a diaper. The comparison between the hip position without diaper and with double diapers was statistically not significant for all measurements, i.e., right hip flexion (p < 0.33), left hip flexion (p < 0.34), and right and left hip abduction (p < 0.87). The comparison between the hip position with double diapers and on the caretakers' side was statistically significant for all measurements, i.e., right hip flexion (p < 0.001), left hip flexion (p < 0.001) and right and left hip abduction (p < 0.001). We found that the use of double diapers did not affect hip position, while the position formed on the caretaker's side shows favorable influence.