A boy was admitted on day 3 after birth due to shortness of breath for 2 days and cyanosis for 1 day. He had clinical manifestations of dyspnea in the early postnatal period and situs inversus, and was finally diagnosed with Kartagener syndrome. His condition was improved after oxygen therapy, anti-infective therapy, and aerosol therapy. The genetic testing showed that there was a large-fragment loss of heterozygosity, exon 48_50, and a hemizygous mutation, c.7915C > T(p.R2639X), in the
China ; Dyspnea ; Exons ; Humans ; Infant, Newborn ; Kartagener Syndrome/therapy* ; Male ; Situs Inversus/genetics*

Biopsy, Needle ; Female ; Humans ; Immunohistochemistry ; In Situ Hybridization ; Lung Neoplasms ; diagnostic imaging ; metabolism ; pathology ; Middle Aged ; Situs Inversus ; diagnostic imaging ; metabolism ; pathology

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease affecting motile cilia. A female neonate was hospitalized with respiratory distress 72 hours after birth and showed concurrent situs inversus. She was identified to have compound heterozygous mutations in DNAH5: c.5647C>T, p.Arg1883Ter (nonsense mutation) and c.10810dupA, p.Ile3604AsnfsTer2 (frameshift mutation). Sanger sequencing confirmed that they were inherited from her father and mother, respectively, and she was diagnosed with PCD. The c.10810dupA is a novel DNAH5 mutation that has never been reported. To the best of our knowledge, this is the first report describing DNAH5 mutations in a Korean patient with PCD.
Cilia ; Fathers ; Female ; Humans ; Infant, Newborn ; Kartagener Syndrome ; Mothers ; Parturition ; Situs Inversus

A 58-year-old male patient with situs inversus totalis, a rare congenital malformation characterized by all asymmetric organs being formed as the mirror images of their normal morphologies, underwent mitral valve repair due to mitral valve prolapse. This case was reported to suggest that anesthesiologists should thoroughly understand the anatomy of these types of patients before providing cardiac anesthesia that often requires advanced monitoring and rely on their accurate interpretation. Accordingly, a few key points will be discussed with emphasis on reversing lead placement during electrocardiogram monitoring, using the left internal jugular vein for pulmonary artery catheterization, and firmly comprehending mirror image heart morphology to better conduct transesophageal echocardiography.
Anesthesia ; Catheterization, Swan-Ganz ; Echocardiography, Transesophageal ; Electrocardiography ; Heart ; Humans ; Jugular Veins ; Male ; Middle Aged ; Mitral Valve ; Mitral Valve Prolapse ; Situs Inversus ; Thoracic Surgery

The use and application of a laparoscopic cholecystectomy has been regarded as a first-choice treatment option for benign gallbladder disease, even if patients have situs inversus totalis. Furthermore, surgical procedures in general are becoming less invasive, because of both patient and surgeon preferences for reduced trauma and improved cosmetic outcomes attributable to minimized incisions. A 37 years old man was aware of situs inversus totalis with chronic cholecystitis. The operation was successfully performed without any specific complications. Single port laparoscopic cholecystectomy, in an experienced operator, is possible even in patients with situs inversus totalis.
Cholecystectomy, Laparoscopic ; Cholecystitis ; Gallbladder Diseases ; Humans ; Situs Inversus

An 18-year-old male patient with cerebral palsy and scoliokyphosis came to the emergency department with abdominal distension and vomiting. He was a situs inversus patient with a feeding gastrostomy tube. Sigmoid volvulus was initially suspected, so rectal tube insertion and endoscopic decompression were attempted, but failed. So he went through explorative laparotomy, and transverse colonic adhesion and twisting around the gastrostomy tube and gastric wall was identified. Adhesiolysis and resection with redundant transverse colon and end-to-end colocolic anastomosis was performed. He discharged with symptom free. Suspecting transverse colonic volvulus is important when the patient has anatomical anomalies and feeding gastrostomy tube. Timely diagnosis with proper radiologic imaging should be made. Surgical resection of the redundant colon is needed for successful management of transverse colonic volvulus.
Adolescent ; Cerebral Palsy ; Colon ; Colon, Sigmoid ; Colon, Transverse ; Decompression ; Diagnosis ; Emergency Service, Hospital ; Gastrostomy ; Humans ; Intestinal Volvulus ; Laparotomy ; Male ; Scoliosis ; Situs Inversus ; Vomiting

Situs inversus is a rare hereditary disorder in which various anomalies have been reported with internal rotation abnormalities. This case involved an 85-year-old woman who had been diagnosed with transverse colon cancer and who underwent reduced-port laparoscopic surgery. All intra-abdominal organs were reversed left to right and right to left. The aberrant midcolic artery was identified during surgery. The total surgery time was 170 minutes, and the patient lost 20 mL of blood. The patient was discharged on the 8th postoperative day without complications.
Aged, 80 and over ; Arteries ; Colon, Transverse* ; Colonic Neoplasms ; Female ; Humans ; Laparoscopy* ; Situs Inversus*

Situs inversus totalis (SIT) is a rare condition in which the viscera are transposed in a mirror image reversal. We report two cases of laparoscopic cholecystectomy (LC) performed for SIT patients. A 63-year old male patient with SIT was diagnosed with symptomatic gallstones. We performed LC by 3-port method. The patient was discharged uneventfully on postoperative day 2. A 57-year old female patient with SIT underwent LC for acute cholecystitis. Due to severe inflammation an assistant was needed. The patient was discharged uneventfully on postoperative day 3. Over 80 cases of LCs in SIT patients have been reported so far and LC has become the standard treatment. The current report confirms the safety of laparoscopy in such cases. Laparoscopic cholecystectomy can be performed safely in SIT patients if care is taken. Surgeons need to be careful of reversed anatomy and unaccustomed working hand.
Cholecystectomy, Laparoscopic* ; Cholecystitis, Acute ; Female ; Gallstones ; Hand ; Humans ; Inflammation ; Laparoscopy ; Male ; Methods ; Situs Inversus* ; Surgeons ; Viscera

PURPOSE: To investigate circumpapillary retinal nerve fiber layer (RNFL) and macular ganglion cell-inner plexiform layer (GCIPL) thicknesses as measured by optical coherence tomography in eyes with situs inversus of optic discs. METHODS: RNFL and macular GCIPL thicknesses were measured in eyes with situs inversus of optic discs without other ocular abnormalities (situs inversus group) and in age- and refractive error-matched healthy eyes (control group). RNFL thickness (global area, superior, nasal, inferior, and temporal quadrants) and GCIPL thickness (global area, superior-temporal, superior, superior-nasal, inferior-nasal, inferior, and inferior-temporal sectors and minimum) were compared between the groups. RESULTS: Nine eyes of 5 subjects with situs inversus of optic discs and 20 healthy eyes of 20 subjects (10 eyes for control groups A and B, respectively) were enrolled. No significant difference was found in superior or inferior quadrant RNFL thickness (p > 0.05); however, the situs inversus group showed a thicker RNFL in the nasal quadrant and a thinner RNFL in the temporal quadrant (p < 0.01). In macular GCIPL thickness, no significant difference was found in the superotemporal or inferiotemporal sector or for minimum thickness (p < 0.05); however, the situs inversus group showed thicker GCIPL in the global area, superior, superonasal, inferonasal, and inferior sectors than the control groups (p < 0.01). CONCLUSIONS: In eyes with situs inversus of optic discs, distribution of circumpapillary RNFL and macular GCIPL thickness were different from eyes without this condition. When assessing RNFL and macular GCIPL thicknesses in eyes with situs inversus of optic discs, caution is needed.
Ganglion Cysts* ; Nerve Fibers* ; Optic Disk ; Retinal Ganglion Cells ; Retinaldehyde* ; Situs Inversus* ; Tomography, Optical Coherence

Primary ciliary dyskinesia is a disease characterized by unexplained neonatal respiratory distress, otitis media, chronic sinusitis, and chronic bronchiectasis. In approximately half of cases, situs inversus totalis or other laterality defects are found. The incidence ranges from 1 in 4,000 to 1 in 40,000 live births. Early diagnosis is important and the disease is finally confirmed by electron microscopic biopsy. The treatment of primary ciliary dyskinesia is based on appropriate procedures. We present a rare case of a 20-year-old male with bronchiectasis, chronic otitis media and chronic sinusitis.
Biopsy ; Bronchiectasis ; Early Diagnosis ; Humans ; Incidence ; Kartagener Syndrome* ; Live Birth ; Male ; Otitis Media ; Sinusitis ; Situs Inversus ; Young Adult