Publications by authors named "Lorenzo Garagnani"

Objective: Prenatal detection and genetic diagnosis of congenital upper limb anomalies is particularly challenging due to both anatomical and technological factors. Hereby, we present a cross-sectional description of clinical and genetic findings in a 188-patient cohort.

Method: In this retrospective study, we present 188 cases with prenatally or postnatally detected upper limb anomalies, either isolated, associated with other anomalies, or syndromic.

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Article Synopsis
  • Two patients of East African descent have been identified with a novel homozygous variant in the parathyroid hormone receptor type 1 (PTH1R), which is linked to Eiken syndrome features such as brachydactyly and skeletal abnormalities.
  • Both patients showed parathyroid hormone resistance, resulting in low calcium and high phosphate levels, which initially pointed to pseudohypoparathyroidism, yet genetic testing confirmed a specific PTH1R mutation.
  • Functional analysis revealed that both PTH1R variants caused increased basal cAMP signaling and reduced responsiveness to PTH and PTH-related peptide, indicating a disruption in PTH1R signaling pathways associated with their clinical symptoms.
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Purpose: Partial wrist denervation can be performed by isolated posterior interosseous nerve (PIN) or combined PIN plus (+) anterior interosseous nerve (AIN) neurectomy procedures. The purpose of the current systematic review is to investigate any differences in clinical outcomes and failures in patients undergoing AIN + PIN vs isolated PIN neurectomy.

Methods: A review of the English Literature was performed on Medline, WOS and Scopus according to PRISMA protocol combining 'wrist denervation', 'PIN neurectomy', 'AIN neurectomy', anterior interosseous nerve neurectomy' and 'posterior interosseous nerve neurectomy'.

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Purpose: The emerging role of the locking plate improved the technique also in corrective osteotomies in Madelung's deformity, but there is a lack of analyses between the fixation techniques, as well as little information in functional outcomes and long-term follow-up. The current study compared the outcomes, pitfalls, and advantages of volar plate and screws fixation versus K-wires fixation in a long-term follow-up.

Methods: Twenty-eight children presenting the "distal radius" variant of Madelung's deformity underwent Vickers ligament release and distal radial dome osteotomy between 2009 and 2015.

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Purpose: Dome osteotomy of the distal radius with Vickers ligament release is an established method of treatment for Madelung deformity. Many different surgical procedures have been proposed in literature but techniques, patient inclusion and efficacy evaluations are heterogeneous.

Materials And Methods: A retrospective review of children affected by 'distal radius' Madelung deformity and treated with a standardized surgical procedure (modified reverse dome osteotomy of the distal radius and volar fixation with a small locking plate) between 2010 and 2018 at a single center was performed.

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 Although the performance of total wrist arthroplasty systems has improved, failure is encountered and is a major challenge to manage.  Does physical function improve with surgical management of the failed wrist arthroplasty? Is there an improvement in secondary outcome measures including pain, grip strength, and range of motion? What are the reasons for failure in primary total wrist arthroplasty? What are the complications associated with revision of the failed total wrist arthroplasty? What are the survival profiles of the different revision strategies?  A systematic review of available literature was performed. Studies were systematically assessed, and data extracted from suitable studies for review.

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 End-stage wrist arthritis has traditionally been treated with a total wrist fusion. There is a recent trend toward motion preserving surgery in the form of total wrist replacement.  Is there a functional benefit to performing a total wrist replacement instead of a total wrist fusion in patients with end-stage wrist arthritis? Is there any difference in secondary outcome measures including pain, grip strength, and range of motion? Does the risk of adverse events and treatment failure differ between the two techniques?  A systematic literature search was performed to identify studies reporting either total wrist arthrodesis or arthroplasty for end-stage wrist arthritis.

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Unlabelled: consequently reports in the international literature are mainly of individual cases and small series.

Material Of Study: This is a retrospective review of a series of 25 patients with lipomatous tumours of the hand and wrist treated between 2001 and 2009. All patients underwent clinical and radiological assessment and a marginal excisional biopsy.

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Background: Specific data regarding the frequencies of the congenital upper limb anomalies (CULA) according to their etiology are hardly available due to the heterogeneity across classification systems. In this study, we aim at defining the CULA etiology of patients that have been evaluated at the Modena University Hospital's Congenital Hand Malformations multidisciplinary clinic in the years 2004 to 2012.

Methods: Medical records of 487 patients were retrospectively reviewed.

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Objective: To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association who were ascertained for upper limb involvement.

Study Design: The study involved a review of clinical and radiologic data from patients with VACTERL association collected by a hand surgery clinic between 2004 and 2013.

Results: Radial axis involvement was found in all 25 patients (100%), with severe thumb function impairment in 79% and complete absence of the radius in roughly 33%.

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Aim: To compare the Italian and UK specialist training programmes and the role of the specialist in a surgical discipline.

Backgrounds: Italian postgraduate medical and surgical trainees have the opportunity to spend up to 12 months in accredited foreign health facilities as part of their training programme.

Materials And Methods: A comparison between the Italian and the UK specialist training programmes structure, training methods, trainees assessments, board examinations and clinical duties and research opportunities of the specialist trainees is performed.

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Free nonvascularized phalangeal transfer from a toe to congenitally hypoplastic digits, is an established procedure in the repertoire of digit reconstruction. The hypoplastic digit is frequently flexed, due to shortage of palmar soft tissues. The phalanx must be transferred intact, with a complete periosteal covering.

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Purpose: Free nonvascularized toe phalangeal transfer is an established surgical option for the reconstruction of hypoplastic digits. This study assessed long-term morbidity in the feet using this technique.

Methods: We reviewed 40 children treated between 1991 and 2007 by free nonvascularized toe phalangeal transfer.

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Hydatid disease of bone is a rare event, and it is characterized by a high diagnostic and therapeutic complexity. We report a case of primary hydatidosis of the proximal thigh involving both the soft tissues and the proximal femur in a 59-year-old man. It has been possible to establish the diagnosis only 8 years after the appearance of the first symptoms (painful swelling over the root of the left thigh), when the patient came to our institution after several investigations.

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The long-term successful outcomes of total hip replacement led to an extension of the surgical indications to young and active patients. To achieve a prompt functional recovery, varying surgical techniques have been proposed. In this study we present our anterolateral soft tissue sparing approach characterised by a lesser dissection of the muscles, a capsular repair and an accurate soft tissue tensioning and reconstruction.

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