Siblings with Imperforate anus and aplastic nasal alae: Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a rare genetic entity reported in medical literature resulting from mutations in UBR1 gene, affecting pancreas, craniofacial and urogenital development, causing significant morbidity and mortality. We report a neonate presenting with anorectal malformation requiring surgical intervention at birth, with similar surgeries being performed in two elder siblings. Surviving sibling of the proband neonate also has similar dysmorphic features of absent ala nasi, aplasia cutis of scalp along with pancreatic insufficiency, profound sensorineural hearing loss, pheno-type corresponding to Johanson-Blizzard syndrome. Syndromic diagnosis helps in screening for associated potential issues, which can intervened at early stages.

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Desmoid-type Fibromatosis

10.2310/cgso.16111 ◽

2019 ◽

Author(s):

Aimee M. Crago ◽

Timothy M. Loftus

Keyword(s):

Surgical Intervention ◽

Metastatic Potential ◽

Soft Tissue Tumors ◽

Nonoperative Treatment ◽

Treatment Modalities ◽

Adenomatous Polyposis ◽

Significant Morbidity ◽

Ablative Therapies ◽

Systemic Treatments ◽

Active Observation

Desmoid-type fibromatosis is a rare disease that does not have metastatic potential. It can be locally aggressive or regress spontaneously. For this reason, and because many of these tumors are inoperable or surgery is associated with significant morbidity, nonoperative treatment modalities are now more commonly employed to manage these lesions. Active observation, ablative therapies, and systemic treatments such as doxorubicin-based chemotherapy or sorafenib can be prescribed to minimize morbidities associated with the disease and surgical intervention. A thorough understanding regarding desmoid biology and the relative indications for multimodality therapies is essential to triage patients for appropriate interventions. This review contains 5 figures, and 29 references. Key Words: active observation, β-catenin, desmoid, familial adenomatous polyposis, fibromatosis, soft tissue tumors

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Renal stones

Annals of Clinical Biochemistry International Journal of Laboratory Medicine ◽

10.1177/0004563218781672 ◽

2018 ◽

Vol 56 (1) ◽

pp. 15-27 ◽

Cited By ~ 2

Author(s):

Adie Viljoen ◽

Rabia Chaudhry ◽

John Bycroft

Keyword(s):

Risk Assessment ◽

High Risk ◽

Renal Stone ◽

Surgical Intervention ◽

Recurrent Disease ◽

Renal Stones ◽

Evidence Base ◽

Stone Disease ◽

Significant Morbidity ◽

Renal Stone Disease

Renal stone disease is a worldwide problem which carries significant morbidity. It frequently requires specialist urology intervention. Patients with recurrent disease and those at high risk require specialist investigations and review. Certain cases benefit from medical and surgical intervention. In this review, we discuss the pathophysiology, risk assessment, specialist investigations and various interventions, their rationale and evidence base. This review aims to provide an update of the previous publication in 2001 in this journal on this topic.

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Survival of multiple nail gun injuries to the head, lung, and heart: A case report

10.21203/rs.3.rs-35448/v1 ◽

2020 ◽

Author(s):

Suo-Hsien Wang ◽

Mao-Yu Chen ◽

Tzu-Yen Huang ◽

Che-Chia Chang ◽

Chih-Ying Chien

Keyword(s):

Emergency Department ◽

Case Report ◽

Suicide Attempt ◽

Surgical Planning ◽

Surgical Intervention ◽

Treatment Strategies ◽

Emergency Physicians ◽

Significant Morbidity ◽

Case Presentation ◽

The Brain

Abstract Background: Most nail gun injuries occur at the extremities due to working accidents. Injuries to the brain or thorax are relatively rare, and cases with both injuries are even rarer. Initial evaluation, resuscitation and surgical planning can be challenging. Case presentation: Here, we present a case with nail gun injuries to the brain, lung, and heart by suicide attempt. The patient presented to the emergency department under shock. After resuscitation and surgical intervention, he was discharged without significant morbidity. Conclusions: Multiple nail gun injuries, especially those to vital organs such as the brain, lung, and heart, can be challenging to emergency physicians and surgeons. Imaging tools, treatment strategies, and possible complications are discussed in this article to provide optimized outcomes in such situations.

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A Review of the Effect of Lower-Extremity Pathology on Automobile Driving Function

Journal of the American Podiatric Medical Association ◽

10.7547/16-089 ◽

2019 ◽

Vol 109 (2) ◽

pp. 132-140 ◽

Cited By ~ 1

Author(s):

Andrew J. Meyr ◽

Laura E. Sansosti

Keyword(s):

Lower Extremity ◽

Medical Literature ◽

Surgical Intervention ◽

Automobile Driving ◽

Foot And Ankle ◽

State Regulations ◽

Driving Function ◽

Lower Limb Surgery ◽

Musculoskeletal Pathology ◽

Made In

The effect of lower-extremity pathology and surgical intervention on automobile driving function has been a topic of contemporary interest in the medical literature. The objective of this review was to summarize the topic of driving function in the setting of lower-extremity impairment. Included studies involved lower-extremity immobilization devices, elective and traumatic lower-limb surgery, chronic musculoskeletal pathology, and diabetes as it relates to the foot and ankle, focusing on the effect each may have on driving function. We also discuss the basic US state regulations with respect to impaired driving and changes to automobile structure that can be made in the setting of lower-extremity pathology.

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Aneurysm of an aberrant splenic artery: An extremely rare occurrence

Vascular ◽

10.1177/1708538115597372 ◽

2015 ◽

Vol 23 (6) ◽

pp. 637-638 ◽

Cited By ~ 1

Author(s):

Rohit Bhoil ◽

Ashwani Tomar ◽

Sushma Makhaik ◽

RG Sood ◽

Nishant Nayyar

Keyword(s):

Superior Mesenteric Artery ◽

Mesenteric Artery ◽

Rare Case ◽

Splenic Artery ◽

Surgical Planning ◽

Medical Literature ◽

Surgical Intervention ◽

Rare Occurrence ◽

Anatomical Variant ◽

English Medical Literature

An aberrant splenic artery arising from the superior mesenteric artery, also known as the splenomesenteric trunk, is a rare anatomical variant seen in less than 1% of the population and is more common in females. Aneurysms of the splenic artery originating anomalously from the superior mesenteric artery are extremely rare; only 35 cases of aneurysm of an aberrant splenic artery have been described so far in the English medical literature. We report an extremely rare case of aneurysm of aberrant splenic artery in a 28-year-old man in whom the lesion was detected during routine abdominal scanning and confirmed on computed tomography angiography. Aneurysms of an anomalous splenic artery originating from the superior mesenteric artery are extremely rare; however, they are clinically important because possible rupture could be catastrophic. Exploring these variations is important especially if surgical intervention is contemplated. This could greatly affect the surgical planning and avoid injuries to major arteries and organs intraoperatively.

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Tubocutaneous Fistula due to Endometriosis – A Differential Diagnosis in Cutaneous Fistulas with Cyclic Secretion

Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics ◽

10.1055/s-0036-1597754 ◽

2017 ◽

Vol 39 (01) ◽

pp. 31-34

Author(s):

Edinari Lopes ◽

Lia Damásio ◽

Laio Passos

Keyword(s):

Differential Diagnosis ◽

Surgical Intervention ◽

Rare Complication ◽

Iliac Fossa ◽

Main Diagnosis ◽

Significant Morbidity ◽

Cutaneous Fistula ◽

Left Iliac Fossa ◽

Surgical Scar ◽

Hormonal Therapies

The development of a tubocutaneous fistula due to endometriosis in a post-cesarean section surgical scar is a rare complication that generates significant morbidity in the affected women. Surgery is the treatment of choice in these cases. Hormonal therapies may lead to an improvement in symptoms, but do not eradicate such lesions. In this report, we present a 34-year-old patient with a cutaneous fistula in the left iliac fossa with cyclic secretion. Anamnesis, a physical examination, and supplementary tests led us to suggest endometriosis as the main diagnosis, which was confirmed after surgical intervention.

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Chorioretinal Atrophy after Spontaneous Resolution of Myopic Foveoschisis

Case Reports in Ophthalmological Medicine ◽

10.1155/2014/825906 ◽

2014 ◽

Vol 2014 ◽

pp. 1-4

Author(s):

Antonio García-Ben ◽

José Manuel García-Campos ◽

María José Morillo Sanchez ◽

Laura Cristina Figueroa-Ortiz

Keyword(s):

Medical Literature ◽

Surgical Intervention ◽

Spontaneous Resolution ◽

Imaging Modalities ◽

Pathologic Myopia ◽

Natural Evolution ◽

Myopic Foveoschisis ◽

Chorioretinal Atrophy ◽

Visual Improvement ◽

Major Complications

Myopic foveoschisis is one of the major complications of pathologic myopia, and it was most recently identified by new imaging modalities. During the natural evolution of this complication, anatomical and visual improvement without surgical intervention is an unusual course, and most of these eyes remain stable or progressively worsen. The authors report a case of a highly myopic eye that developed patchy chorioretinal atrophy after spontaneous resolution of myopic foveoschisis, which to the best of our knowledge has not been reported previously in the medical literature.

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A rare case report of aplasia cutis congenita of the scalp with triplet skin defects in non-syndromic newborn

International Surgery Journal ◽

10.18203/2349-2902.isj20210468 ◽

2021 ◽

Vol 8 (3) ◽

pp. 997

Author(s):

Naim Sulaiman Abuzarifa ◽

Wan Azman Wan Sulaiman

Keyword(s):

Case Report ◽

Gestational Age ◽

Rare Case ◽

Surgical Intervention ◽

Skin Condition ◽

Skin Defect ◽

Aplasia Cutis Congenita ◽

Skin Defects ◽

Rare Case Report ◽

Aplasia Cutis

Aplasia cutis congenita is an uncommon localized or widespread congenital skin condition characterized by the absence of the skin, and occasionally underlying tissues occurs in about one every 10.000 birth mostly in the scalp as single or more than one lesion and sometimes occurs in extremities and trunk with an uncertain cause and can be associated with numerous syndromes or can be sporadic which is diagnosed clinically and usually conservatively managed but sometimes surgical intervention needed. In this literature, we present nonsyndromic newborn Malay girl normally delivered with 35 weeks gestational age with triplet skin raw areas at the vertex of the scalp with well-demarcated defect round in shape measured about 0.5 in radius covered with a noninflammatory, necrotic patch. To our knowledge, many works of literatures presented Aplasia cutis congenita at the scalp with solitary single or occasionally more than one skin defect. In contrast, in our case, we present an infrequent rare case of triplet skin defect of aplasia cutis congenita for nonsyndromic newborns.

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Spinal Epidural Abscess İn An Adolescent (Case Report)

The Journal of Tepecik Education and Research Hospital ◽

10.5222/terh.2021.46872 ◽

2021 ◽

Author(s):

Meryem Badem ◽

Serpil Ugur Baysal ◽

İlknur Karyağdı ◽

Nusret Oren ◽

Hamit Selim Karabekir ◽

...

Keyword(s):

Medical Literature ◽

Epidural Abscess ◽

Surgical Intervention ◽

Neurological Deficits ◽

Spinal Epidural Abscess ◽

Spinal Magnetic Resonance Imaging ◽

Serious Infection ◽

English Medical Literature ◽

Spinal Epidural ◽

Systemic Antibiotics

Spinal infections in immunocompetent children are very rare. But it is a serious infection in the epidural space along the spinal cord. It should be considered in patients with backache, fever, neurological deficits and/or spinal tenderness. There are cases which an etiology could not determined. In the English medical literature, there are only 31 reported pediatric cases in the last two decades. In children with neurologic deficits, surgery combined with systemic antibiotics constitutes the optimal therapy. We report a case of thoracal spinal epidural abscess in a 12-year-old adolescent boy who was immunocompetent and presented with spinal tenderness, back pain and four days of fever. A spinal magnetic resonance imaging demonstrated an epidural abscess between T2 and T10 level. An emergent surgical intervention was applied. Cultures remained negative. He was given systemic antibiotics for six weeks. He recovered without any sequelae.

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Human Horns: A Historical Review and Clinical Correlation

Neurosurgery ◽

10.1227/01.neu.0000064810.08577.49 ◽

2003 ◽

Vol 52 (6) ◽

pp. 1443-1448

Author(s):

R. Shane Tubbs ◽

Matthew D. Smyth ◽

John C. Wellons ◽

Jeffrey P. Blount ◽

W. Jerry Oakes

Keyword(s):

Medical Care ◽

Current Literature ◽

Third World ◽

Medical Literature ◽

Surgical Intervention ◽

Historical Review ◽

Frontal Bone ◽

Clinical Correlation ◽

Scalp Lesions ◽

Early Surgical Intervention

Abstract OBJECTIVE Accounts of bony human horns originating from the cranium are found peppered throughout the early medical literature. This study reviews the extant literature regarding these entities to elucidate their authenticity. METHODS We reviewed both historical and current literature as well as osteological material from our anatomy laboratories for accounts or observations of bony outgrowths of the calvaria in humans. RESULTS Human horns seem to be mentioned more frequently in the historical literature and are documented primarily with drawings. Moreover, from early accounts, it is often difficult to distinguish true large bony outgrowths from scalp excrescences. Only two cadaveric specimens from our laboratory were noted to have small anomalous bony protuberances, one on the occiput and one on the frontal bone. CONCLUSION With the lack of either photographic or extreme dry specimen evidence of such human horns, we would propose that benign calvarial tumors, such as osteomas, may have initiated speculation that such entities, i.e., horns, exist in humans but that scalp lesions, exaggeration, legend, and religious beliefs have historically propagated these entities to a mythical status. In addition, early surgical intervention and changes in nomenclature may have also decreased the frequency of such sightings. Finally, many early descriptions have not been repeated in recent history, even in third-world countries lacking advanced medical care.

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