scholarly journals Gestational Gigantomastia Complicating Pregnancy: A Case Report and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Shadi Rezai ◽  
Jenna T. Nakagawa ◽  
John Tedesco ◽  
Annika Chadee ◽  
Sri Gottimukkala ◽  
...  
Keyword(s):  
Breast Tissue ◽  
Disease Process ◽  
Reference Value ◽  
Rare Disorder ◽  
Review Of The Literature ◽  
Breast Hypertrophy ◽  
Similar Phenotype ◽  
Peau D’Orange ◽  
Hematological Abnormalities ◽  
Normal Reference Value

Background. Gestational gigantomastia is a rare disorder without clear etiology or well-established risk factors. Several pathogenic mechanisms contributing to the disease process have been proposed, all of which can lead to a similar phenotype of breast hypertrophy.Case. A 28-year-old Guinean woman presented at 37 weeks of gestation with bilateral gigantomastia, mastalgia, peau d’orange, and back pain. Prolactin levels were 103.3 μg/L (with a normal reference value for prolactin in pregnancy being 36–372 μg/L). The patient was treated with bromocriptine (2.5 mg twice daily), scheduled for a repeat cesarean, and referred to surgery for bilateral mammoplasty.Conclusion. Gestational gigantomastia is a rare disorder, characterized by enlargement and hypertrophy of breast tissue. Our patient presented with no endocrine or hematological abnormalities, adding to a review of the literature for differential diagnoses, workup, and management of cases of gestational gigantomastia with normal hormone levels.

scholarly journals Testosterone and Gonadotropins in Infertile Men with Sertoli Cell Only Syndrome from Gaza Strip

2017 ◽  
Vol 18 (1) ◽  
pp. 21-26 ◽  
Author(s):  
Maged M Yassin ◽  
Abdel Monem H Lubbad ◽  
Ahmed Z Taha ◽  
Mohammed M Laqqan ◽  
Samar M Abu Jamiea
Keyword(s):  
Sertoli Cell ◽  
Gaza Strip ◽  
Follicle Stimulating Hormone ◽  
Reference Value ◽  
Serum Testosterone ◽  
Testicular Biopsy ◽  
Enzyme Linked Immunosorbent Assay ◽  
Hypogonadotrophic Hypogonadism ◽  
Infertile Men ◽  
Normal Reference Value

Aim: To assess serum testosterone and gonadotropins in Sertoli cell only syndrome patients from Gaza Strip.Methods: Based on testicular biopsy, a cross section of 74 Sertoli cell only syndrome patients were enrolled in the study. Age matched 44 fertile men were served as controls. Patients and controls were questioned for their medical history. Blood samples were drawn and serum testosterone, luteinizing hormone (LH), and follicle stimulating hormone (FSH) were determined by enzyme-linked immunosorbent assay. Data were computer analyzed using SPSS/PC, version 18.0.Results: Varicocele and hormonal problems were significantly more frequent among patients than controls (P<0.05). Serum testosterone was significantly lower in patients compared to controls (1.7±1.3 versus 5.0±2.2 ng/ml, P=0.000). In contrast, LH and FSH were significantly higher in patients than controls (12.8±9.7 and 20.8±14.8 mlU/ml versus 6.3±3.1 and 7.7±3.9 mlU/ml, P=0.000, respectively). Hypergonadotrophic hypogonadism and hypogonadotrophic hypogonadism patients showed lower levels of testosterone compared to the normal reference value (0.9±0.5 and 0.5±0.4 ng/ml versus 2.0-7.0 ng/ml). Higher levels of LH and FSH were recorded in hypergonadotrophic hypogonadism (24.5±2.6 and 37.4±6.7 mlU/ml) compared to the reference values of 2.0-13.0 and 2.5-10.0 mlU/ml, respectively whereas LH and FSH levels were lower in hypogonadotrophic hypogonadism (0.6±0.4 and 0.6±0.5 mlU/ml, respectively). In this context, all hypergonadotrophic hypogonadism and hypogonadotrophic hypogonadism patients showed abnormal levels of testosterone, LH and FSH.Conclusions: Abnormal levels of serum testosterone, LH and FSH, particularly in hypergonadotrophic hypogonadism and hypogonadotrophic hypogonadism were identified in infertile men with Sertoli cell only syndrome from Gaza Strip.J MEDICINE January 2017; 18 (1) : 21-26

Subglottic and Tracheal Malignancies

1992 ◽  
Vol 71 (5) ◽  
pp. 233-237 ◽  
Author(s):  
Kevin S. Kennedy ◽  
Gregg S. Parker
Keyword(s):  
Chest Pain ◽  
Unusual Case ◽  
Disease Process ◽  
Accurate Diagnosis ◽  
High Index ◽  
Morbidity And Mortality ◽  
Diagnosis And Treatment ◽  
Review Of The Literature ◽  
Survival Patterns ◽  
High Index Of Suspicion

Subglottic and tracheal malignancies are the least frequently encountered laryngeal cancers. When these tumors are encountered, they have often reached advanced size prior to producing symptoms. Once symptoms are brought to the attention of the otolaryngologist, rapid and accurate diagnosis is essential to effect the earliest possible treatment and to minimize morbidity and mortality associated with this problem. Illustrative cases are presented including a highly unusual case that presented with cardiac-like chest pain. A review of the literature including the pertinent anatomy, pathophysiology, and methods of diagnosis and treatment is presented. Increased familiarity with this disease process and a high index of suspicion on the part of the otolaryngologist may lead to improved survival patterns in patients with these malignancies.

Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature

2018 ◽  
Vol 156 (4) ◽  
pp. 173-178 ◽  
Author(s):  
Fernanda T. Bellucco ◽  
Rodrigo A. Fock ◽  
Hélio R. de Oliveira-Júnior ◽  
Ana B. Perez ◽  
Maria I. Melaragno
Keyword(s):  
Genetic Counseling ◽  
Developmental Delay ◽  
Clinical Implication ◽  
Marker Chromosome ◽  
Accurate Diagnosis ◽  
Facial Dysmorphism ◽  
Review Of The Literature ◽  
Small Supernumerary Marker Chromosome ◽  
Wide Range ◽  
Similar Phenotype

Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques. The marker chromosome der(21)t(4;21)(q32.1; q21.2)mat is composed of a 25.6-Mb 21pterq21.2 duplication and a 32.1-Mb 4q32.1q35.2 duplication. In comparison to patients with sSMCs derived from chromosomes 4 and 21, our patient showed a similar phenotype with neuropsychomotor developmental delay and facial dysmorphism as the most important finding, being a composition of the findings found in pure 4q and 21q duplications. The wide range of phenotypes associated with sSMCs emphasizes the importance of detailed cytogenomic analyses for an accurate diagnosis, prognosis, and genetic counseling.

Elephantiasis Nostras Verrucosa or “Mossy Foot Lesions” in Lymphedema Praecox

2008 ◽  
Vol 98 (1) ◽  
pp. 66-69 ◽  
Author(s):  
Amy L. Duckworth ◽  
Jugnoo Husain ◽  
Patrick DeHeer
Keyword(s):  
Case Report ◽  
Chronic Inflammation ◽  
Disease Process ◽  
Wuchereria Bancrofti ◽  
Body Part ◽  
Rare Disorder ◽  
Chronic Obstructive ◽  
Fibroblast Proliferation ◽  
Clinical Appearance ◽  
Foot Lesions

Elephantiasis nostras verrucosa is a rare disorder that results from chronic obstructive lymphedema. It is characterized clinically by deforming, nonpitting edema; malodorous hyperkeratosis with generalized lichenification; cobblestoned papules; and verrucous changes, that often result in extreme enlargement of the involved body part. Although elephantiasis nostras verrucosa is striking in clinical appearance, biopsy reveals only moderately abnormal findings: pseudoepitheliomatous hyperplasia with dilated lymphatic spaces in the dermis, accompanied by chronic inflammation and fibroblast proliferation. The term elephantiasis nostras (nostras means “from our region”) has traditionally been used to differentiate temperate zone disease from the classic disease process, elephantiasis tropica, which is defined by chronic filarial lymphatic obstruction caused by Wuchereria bancrofti, Wuchereria malayi, or Wuchereria pacifica. We present a case report of elephantiasis nostras verrucosa arising as a result of lymphedema praecox. (J Am Podiatr Med Assoc 98(1): 66–69, 2008)

A midline nasopharyngeal heterotopic neuroglial tissue

2006 ◽  
Vol 120 (7) ◽  
pp. 1-4 ◽  
Author(s):  
A Y Al-Ammar ◽  
H S Al Noumas ◽  
M Alqahtani
Keyword(s):  
Differential Diagnosis ◽  
Airway Obstruction ◽  
Upper Airway ◽  
Upper Airway Obstruction ◽  
Rare Disorder ◽  
Pathological Features ◽  
Review Of The Literature ◽  
Nasal Glioma ◽  
Glial Heterotopia

Glial heterotopia is a rare disorder. However, it must be considered in the differential diagnosis of airway obstruction in the newborn. Differentiation of this lesion from nasal glioma and encephalocele is important.In this paper we report a midline glial heterotopia, which presented with upper airway obstruction in a newborn. The origin of a glial heterotopia from the midline of the nasopharynx has not been reported before.We present a review of the literature and discuss the clinical, radiological and pathological features of nasopharyngeal brain heterotopia in an infant.

scholarly journals Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Sepideh Mokhtari ◽  
Saeedeh Mokhtari ◽  
Ali Lotfi
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Classical Case ◽  
Common Type ◽  
Rare Disorder ◽  
Review Of The Literature ◽  
Sebaceous Glands ◽  
Dental Abnormalities ◽  
Anhidrotic Ectodermal Dysplasia

Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. In view of the rarity of this entity, a classical case of anhidrotic ectodermal dysplasia is reported. We have also provided a review of recent investigations in the area of dental abnormalities in this syndrome.

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