Progesterone pharmacokinetic study

Abrams, Larry S.; Berger, B.M.

doi:10.1016/j.fertnstert.2009.10.018

Cited by 3 publications

(5 citation statements)

References 5 publications

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“…The most common sites of malignant transformation of endometriosis are the ovaries. About 20% of cases occur in extragonadal sites including the rectovaginal septum, colon and vagina [2]. The malignant transformation of endometriosis in the abdominal wall is a rare event and less than 30 cases have been reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

“…Only a few cases of malignant abdominal wall endometriosis have fulfilled all four criteria [6]. All cases of malignant transformation of abdominal wall endometriosis in the literature had a history of surgery that caused the iatrogenic dissemination of the endometrium and a histological type of tumor compatible with an endometrial origin and no other primary site was identified [2,7-9]. …”

Section: Discussionmentioning

confidence: 99%

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Clear cell carcinoma arising from abdominal wall endometriosis: a unique case with bladder and lymph node metastasis

Liu

Lang

et al. 2014

World J Surg Onc

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The malignant transformation of abdominal wall endometriosis is a rare event and poorly understood. Less than 30 cases have been reported in the literature. Most of the reported cases have a solitary tumor in the abdominal scar. A few cases have metastasis. Here we report a case of clear cell carcinoma in abdominal wall endometriosis with bladder and lymph system metastasis. The patient had a history of abdominal wall endometriosis and recently developed symptoms of urgent urination and inguinal mass. Physical examination and a computed tomography (CT) scan detected lymph node metastasis. CT and cystoscopy confirmed bladder involvement. The patient underwent extensive surgery and chemotherapy. Pathological analysis made a diagnosis of clear cell carcinoma with bladder and lymph node metastasis. The patient was followed up and died of the disease. Symptoms of bladder invasion and lymph node spread could be a sign of malignant transformation. Local invasion and lymph node spread are two important forms of tumor metastasis. Extensive lymph nodes metastasis might be related with poor prognosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clear cell carcinoma arising from abdominal wall endometriosis: a unique case with bladder and lymph node metastasis

Liu

Lang

et al. 2014

World J Surg Onc

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“…In human, ultrastructural defects in cilia results in altered ciliary beat in PCD patients ( Satir and Christensen, 2007 ; Matsumoto et al, 2010 ). PCD is a rare autosomal recessive genetic disease ( Blouin et al, 2000 ), manifest with recurrent upper respiratory tract infections, increased morbidity in visceral, male infertility and female ectopic pregnancy or infertility ( Boon et al, 2015 ).…”

Section: Discussionmentioning

confidence: 99%

“…The application of HOST is a valuable tool for the routine identification and selection of viable spermatozoa for ICSI ( Stanger et al, 2010 ). To date, most patients with PCD are reported to have 100% immotile sperm ( Matsumoto et al, 2010 ). Consistent with that report, no motile sperm were found in the ejaculated specimen in our case.…”

Section: Discussionmentioning

confidence: 99%

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

et al. 2018

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Purpose: Primary ciliary dyskinesia (PCD) is a rare genetic disorder manifested with recurrent infections of respiratory tract and infertility. Mutations in more than 20 genes including the Coiled-Coil Domain Containing 40 (CCDC40) gene are associated with PCD. A Chinese proband with a clinical diagnosis of PCD was analyzed for mutations in these genes to identify the genetic basis of the disease in the family. The proband showed altered mucociliary clearance of the airways, various degree of hyperemia and edema of the mucous membrane, left/right body asymmetry, infertility and ultrastructural abnormality of cilia in both sperm and bronchioles.Methods: The DNA from the proband was analyzed for genetic variation in a subset of genes known to cause PCD using targeted next generation sequencing in order to understand the molecular and genetic basis of the PCD in present family. The result of targeted next generation sequencing has been validated by Sanger sequencing and q-PCR.Results: Targeted next-generation sequencing identified two novel mutations (c.1259delA and EX17_20 deletion) in CCDC40 gene that causes abnormal CCDC40 mRNA expression. These two novel variants cause disorganization of axoneme filaments, which resulted in reduction of sperm motility and phenotypic diversity in ultrastructure of cilia in the proband.Conclusion: These findings highlight the significance of the mutations in CCDC40 as novel candidates for genetic testing in PCD patients as well as the key role of ICSI treatment for the families affected by this ciliary dysmotility. Our findings showed that our work enriched the performance of cilia ultrastructure which were not previously reported in PCD patients.

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“…Patients with PCD/Kartagener syndrome have asthenozoospermia, up to total immotility. The sperm number can be normal, despite, as the case herein reported, oligozoospermia (up to azoospermia) has also been reported ( Cayan et al, 2001 ; Westlander et al, 2003 ; Nunez et al, 2010 ; Vicdan et al, 2011 ; McLachlan et al, 2012 ; Montjean et al, 2015 ; Mori et al, 2015 ; TE; Papadimas et al, 1997 ; Zumbusch et al, 1998 ; Kay and Irvine, 2000 ; Peeraer et al, 2004 ; Kordus et al, 2008 ; Matsumoto et al, 2010 ; Hattori et al, 2011 ; Geber et al, 2012 ; Kawasaki et al, 2015 ). Several defects have been described in sperm flagellum ultrastructure.…”

Section: Discussionmentioning

confidence: 50%

Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus

Cannarella

Maniscalchi²,

Condorelli

et al. 2020

Front. Genet.

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Introduction: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease characterized by structural or functional motile cilia abnormalities. Up to 40 different genes seem, at the moment, to be involved in the pathogenesis of PCD. A number of ultrastructural defects have also been reported in sperm flagella, but the sperm mitochondrial membrane potential (MMP) has never been described in these cases. Aim: The aim of this study was to report the sperm MMP and ultrastructural abnormalities of the sperm flagella found in a patient with PCD and situs inversus (Kartagener syndrome) and its characterization from the genetic point of view. Methods: Transmission electronic microscopy (TEM) analysis was used to evaluate flagella ultrastructure. The genetic testing was performed by nextgeneration sequencing. Sperm DNA fragmentation and MMP were also evaluated by flow cytometry. Results: We report here the case of an 18-year-old male patient with PCD and situs inversus and severe oligo-astheno-teratozoospermia. TEM analysis of his spermatozoa showed an abnormal connecting piece. The mid piece appeared abnormally thickened, with cytoplasmic residue, dysplasia of fibrous sheath, loss of the outer dynein arms (ODAs), truncated inner dynein arms, and supernumerary outer fibers. The percentage of spermatozoa with fragmented DNA was normal, whereas a high percentage of spermatozoa had low MMP, suggesting an altered mitochondrial function. The genetic analysis showed the presence of c.610-2A > G, p.Arg811Cys compound heterozygous mutations in the CCDC39 gene.

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Progesterone pharmacokinetic study

Cited by 3 publications

References 5 publications

Clear cell carcinoma arising from abdominal wall endometriosis: a unique case with bladder and lymph node metastasis

Clear cell carcinoma arising from abdominal wall endometriosis: a unique case with bladder and lymph node metastasis

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus

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