Publications by authors named "Ghieh F"

Azoospermia (the complete absence of spermatozoa in the semen) is a common cause of male infertility. The etiology of azoospermia is poorly understood. Whole-genome analysis of azoospermic men has identified a number of candidate genes, such as the X-linked testis-expressed 11 (TEX11) gene.

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piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different piRNA pathway genes, including PIWIL1, GTSF1, GPAT2, MAEL, TDRD1, and DDX4. In some affected men, the testicular phenotypes differ from those of the respective knockout mice and range from complete germ cell loss to the production of a few morphologically abnormal sperm.

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The reproductive homeobox on the X chromosome (RHOX) genes were first identified in the mouse during the 1990s and have a crucial role in reproduction. In various transcription factors with a key regulatory role, the homeobox sequence encodes a "homeodomain" DNA-binding motif. In the mouse, there are three clusters of Rhox genes (α, β, and γ) on the X chromosome.

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Introduction: Platysmal bands are an unappealing feature of the aging face. Incomplete understanding of anatomy and physiology of platysmal bands has led to a long period of flawed or incomplete treatment. This review aims to elucidate the correct study of platysmal bands along with the most recent surgical treatments.

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Osteomyelitis is a serious complication associated with war-related limb injuries requiring complicated treatment regimens and management. Few reports have been published from the Middle-East and North-Africa regions about the microbial aetiology of osteomyelitis caused by war injuries. The aim of this review is to collect published data about the microbiology of osteomyelitis in war-related injuries in the region and to derive targeted treatment regimens to manage these serious and limb-threatening infections.

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Paediatric complex wounds pose a challenge to the reconstructive surgeon due to the intricacy of reconstructive options required. Developments in microsurgery and microsurgical technique have brought free tissue transfer ever closer to the comfort zone of the reconstructive surgeon for reconstruction of paediatric traumatic complex wounds. We present our experience of microsurgical reconstruction in Lebanon for complex traumatic wounds in paediatric patients under the age of 10 years using the free anterolateral thigh (ALT) flap.

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Article Synopsis
  • Tear trough deformity (TTD) is associated with aging but can occur at any age, presenting challenges that require both volume enhancement and management of orbital fat and cheek tissue issues.
  • Surgical options for TTD include minimally invasive techniques with fillers or fat transfer, and more invasive procedures like blepharoplasty aimed at overall facial rejuvenation.
  • A review of 435 studies on TTD led to the selection of 44 relevant papers, highlighting that successful treatment typically involves releasing the tear trough retaining ligament and repositioning orbital fat to enhance volume.
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  • Gene expression in meiotic cells in the testis involves high transcription activity and alternative splicing, governed by RNA-binding proteins crucial for fertility.
  • A frameshift mutation was found in the RBMXL2 gene of a man with azoospermia, which is linked to meiotic arrest.
  • The study confirmed loss of RBMXL2 protein in the patient's testis, indicating that the mutation disrupts spermatogenesis and leads to male infertility through altered gene expression.
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Hibernomas are soft tissue tumors derived from remnants of brown fat. They are rare masses that can have variable presentations ranging from incidental asymptomatic masses to pain due to nerve compression. We present the case of a 52-year-old male presenting with an atypical lipomatous mass on ultrasound and magnetic resonance imaging.

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Background: Volume restoration and enhancement of the gluteal region appearance has become nowadays a popular concern in particular for many women. Several options are available, none however are without complications and side effects. Volume enhancement with soft tissue fillers of the gluteal region is emerging as a highly attractive minimally invasive modality.

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  • Whole-exome sequencing (WES) combined with testicular sperm extraction (TESE) offers valuable insights for men experiencing maturation arrest (MA) after a first unsuccessful TESE.
  • Current clinical guidelines lack predictive tests for outcomes in recurrent TESE following MA, and WES could fill this gap, aiding in decision-making.
  • The study analyzed 26 men with idiopathic non-obstructive azoospermia and identified various genetic variants that may impact spermatogenesis, suggesting potential pathways for future research and patient management.
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Down syndrome (DS) is the most common chromosomal disorder. It is responsible for intellectual disability (ID) and several medical conditions. Although men with DS are thought to be infertile, some spontaneous paternities have been reported.

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Background: Although chromosome rearrangements are responsible for spermatogenesis failure, their impact depends greatly on the chromosomes involved. At present, karyotyping and Y chromosome microdeletion screening are the first-line genetic tests for patients with non-obstructive azoospermia. Although it is generally acknowledged that X or Y chromosome rearrangements lead to meiotic arrest and thus rule out any chance of sperm retrieval after a testicular biopsy, we currently lack markers for the likelihood of testicular sperm extraction (TESE) in patients with other chromosome rearrangements.

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Whereas the initially strategy for the genetic analysis of male infertility was based on a candidate gene approach, the development of next-generation sequencing technologies (such as whole-exome sequencing (WES)) provides an opportunity to analyze many genes in a single procedure. In order to recommend WES or whole-genome sequencing (WGS) after genetic counselling, an objective evaluation of the current genetic screening strategy for male infertility is required, even if, at present, we have to take into consideration the complexity of such a procedure, not discussed in this commentary.

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Background: Relying on soft tissues with low structural strength to provide long-term support of the breasts following aesthetic mammoplasty may be inadequate in many instances. To address the inherent weakness of tissues still present after surgery, use of synthetic non-autologous additional tissue reinforcement has been described. The current review is aimed at analyzing available evidence about safety and effectiveness of mesh support in various reduction mammoplasty, mastopexy, or augmentation-mastopexy.

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Face-lift is an established rejuvenation modality; however, when performed alone, it lacks the ability to improve the appearance of fine wrinkles and dyschromias that are an important component of facial rejuvenation. Although it is only natural to be attracted by the latest technologically advanced innovative skin resurfacing techniques, chemical peeling has been proven to be a simple and effective method with a relatively good safety profile. Unfortunately, the practice of chemical peeling has relied for a long time on dogmas perpetuated by early reports without any real scientific basis.

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Background: Fat grafting has been extensively applied as natural filler and has been very promising in restoring volume loss. Lipografting has also been credited to reduce age-related skin changes due to the regenerative potential of adipose derived stem cells. Cell-mediated therapies in plastic surgery are rapidly evolving with growing applications.

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Platelet-rich plasma (PRP) rejuvenation's efficacy has been reported by numerous uncontrolled clinical case studies of inconsistent quality rather than large randomized and placebo-controlled trials. It was suggested that PRP could be considered as a valid anti-aging and rejuvenation treatment modality. The current literature review summarizes available evidence so far described in the literature with special critical attention to higher quality comparative studies published over the last 10 years.

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Background: Pediatric sarcomas are the most common malignancies of bones in childhood. With advances in adjuvant treatment, limb salvage surgery has become common, increasing the demand of skeletal reconstruction. Traditional practice included bone grafting and transport.

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Spermatogenesis is a complex process regulated by a multitude of genes. The identification and characterization of male-germ-cell-specific genes is crucial to understanding the mechanisms through which the cells develop. The term "TEX gene" was coined by Wang et al.

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